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
About this transcript

This transcript has 12 exons, is annotated with 33 domains and features, is associated with 6117 variant alleles and maps to 486 oligo probes.

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

Protein domains for ENSP00000447374.1