Human (GRCh38.p14)
Description

premelanosome protein [Source:HGNC Symbol;Acc:HGNC:10880]

Gene Synonyms

D12S53E, GP100, HMB-45, HMB45, ME20, PMEL17, SI, SIL, SILV

Location

Chromosome 12: 55,954,105-55,973,317 reverse strand.

GRCh38:CM000674.2

About this gene

This gene has 19 transcripts (splice variants), 262 orthologues and 2 paralogues.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000548747.6PMEL-2062126661aaENSP00000448828.1
 
Protein coding
CCDS8897P40967-1 NM_001384361.1MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P4TSL:1
ENST00000552882.5PMEL-2182516661aaENSP00000449690.1
 
Protein coding
CCDS8897P40967-1 -GENCODE basicAPPRIS P4TSL:5
ENST00000548493.5PMEL-2042204661aaENSP00000447374.1
 
Protein coding
CCDS8897P40967-1 -GENCODE basicAPPRIS P4TSL:2
ENST00000449260.6PMEL-2012127668aaENSP00000402758.2
 
Protein coding
CCDS55834P40967-2 -GENCODE basicAPPRIS ALT2TSL:1
ENST00000550464.5PMEL-2151867575aaENSP00000450036.1
 
Protein coding
CCDS55833P40967-3 -GENCODE basicAPPRIS ALT2TSL:2
ENST00000549404.5PMEL-2091355452aaENSP00000449520.1
 
Protein coding
H0YIJ2 -TSL:5CDS 5' and 3' incomplete
ENST00000547137.5PMEL-2031047344aaENSP00000448849.1
 
Protein coding
F8VXH8 -TSL:2CDS 3' incomplete
ENST00000546543.5PMEL-202912299aaENSP00000446662.1
 
Protein coding
F8W1D1 -TSL:2CDS 3' incomplete
ENST00000550447.5PMEL-214901290aaENSP00000448029.1
 
Protein coding
F8VUB1 -GENCODE basicTSL:3
ENST00000548803.5PMEL-207895296aaENSP00000447732.1
 
Protein coding
F8VZC6 -TSL:5CDS 3' incomplete
ENST00000549233.2PMEL-208573134aaENSP00000448871.1
 
Protein coding
F8VYZ1 -TSL:5CDS 3' incomplete
ENST00000549418.5PMEL-211568151aaENSP00000446633.1
 
Protein coding
F8VZV2 -TSL:4CDS 3' incomplete
ENST00000548689.5PMEL-205576No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000549564.1PMEL-213503No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000550590.5PMEL-216801No protein-
 
Retained intron
--TSL:2
ENST00000556802.1PMEL-219754No protein-
 
Retained intron
--TSL:2
ENST00000549430.5PMEL-212646No protein-
 
Retained intron
--TSL:4
ENST00000550762.1PMEL-217505No protein-
 
Retained intron
--TSL:1
ENST00000549413.1PMEL-210461No protein-
 
Retained intron
--TSL:2