Human (GRCh38.p14)
Description

melanophilin [Source:HGNC Symbol;Acc:HGNC:29643]

Gene Synonyms

EXOPHILIN-3, L(1)-3RK, L1RK3, LN, SLAC-2A

Location

Chromosome 2: 237,485,428-237,555,322 forward strand.

GRCh38:CM000664.2

About this gene

This gene has 23 transcripts (splice variants), 260 orthologues, 2 paralogues and is associated with 3 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000264605.8MLPH-2013744600aaENSP00000264605.3
 
Protein coding
CCDS2518Q9BV36-1 NM_024101.7MANE SelectEnsembl CanonicalGENCODE basicAPPRIS ALT2TSL:1
ENST00000338530.8MLPH-2022332572aaENSP00000341845.4
 
Protein coding
CCDS42836Q9BV36-2 -GENCODE basicAPPRIS P2TSL:1
ENST00000410032.5MLPH-2042171457aaENSP00000386338.1
 
Protein coding
CCDS63172Q9BV36-5 -GENCODE basicAPPRIS ALT2TSL:2
ENST00000409373.5MLPH-2032031480aaENSP00000386780.1
 
Protein coding
CCDS63173Q9BV36-3 -GENCODE basicTSL:1
ENST00000437893.5MLPH-2111447360aaENSP00000412438.1
 
Protein coding
H7C3K9 -TSL:5CDS 5' incomplete
ENST00000415753.5MLPH-205841236aaENSP00000409897.1
 
Protein coding
H7C371 -TSL:2CDS 5' incomplete
ENST00000422695.5MLPH-206744131aaENSP00000409170.1
 
Protein coding
C9JKV5 -TSL:4CDS 3' incomplete
ENST00000434770.1MLPH-209726145aaENSP00000399081.1
 
Protein coding
H7C190 -TSL:3CDS 5' incomplete
ENST00000436965.5MLPH-210610203aaENSP00000405337.1
 
Protein coding
H7C2D8 -TSL:3CDS 5' and 3' incomplete
ENST00000429898.5MLPH-20756570aaENSP00000403909.1
 
Protein coding
C9JI01 -TSL:4CDS 3' incomplete
ENST00000432475.5MLPH-208863199aaENSP00000393010.1
 
Nonsense mediated decay
H7C052 -TSL:3CDS 5' incomplete
ENST00000468178.5MLPH-2131979No protein-
 
Protein coding CDS not defined
--TSL:1
ENST00000485956.1MLPH-220707No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000477222.5MLPH-215596No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000477501.5MLPH-217581No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000495439.5MLPH-2232341No protein-
 
Retained intron
--TSL:2
ENST00000464123.5MLPH-2122183No protein-
 
Retained intron
--TSL:1
ENST00000478712.5MLPH-2181371No protein-
 
Retained intron
--TSL:5
ENST00000469619.5MLPH-2141153No protein-
 
Retained intron
--TSL:2
ENST00000494110.5MLPH-222883No protein-
 
Retained intron
--TSL:5
ENST00000477457.1MLPH-216716No protein-
 
Retained intron
--TSL:2
ENST00000489967.1MLPH-221657No protein-
 
Retained intron
--TSL:2
ENST00000482528.1MLPH-219439No protein-
 
Retained intron
--TSL:3