Canonical Allele Identifier: CA1373450964

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69959370C= , CM000665.2:g.69959370C=	GRCh38
NC_000003.11:g.70008521C= , CM000665.1:g.70008521C=	GRCh37
NC_000003.10:g.70091211C=	NCBI36
NG_011631.1:g.224889C= , LRG_776:g.224889C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1063C=	ENSP00000324443.5:p.Arg355=
ENST00000687384.1:c.1060C=	ENSP00000510225.1:p.Arg354=
ENST00000689390.1:n.1285C=
ENST00000693031.1:c.1036C=	ENSP00000509845.1:p.Arg346=
ENST00000693549.1:c.1063C=	ENSP00000509358.1:p.Arg355=
ENST00000314589.10:c.1063C=	ENSP00000324443.5:p.Arg355=
ENST00000352241.9:c.1129C= MANE Select	ENSP00000295600.8:p.Arg377=
ENST00000394351.9:c.808C= MANE Plus Clinical	ENSP00000377880.3:p.Arg270=
ENST00000448226.9:c.1108C=	ENSP00000391803.3:p.Arg370=
ENST00000642352.1:c.1111C=	ENSP00000494105.1:p.Arg371=
ENST00000314557.10:c.790C=	ENSP00000324246.6:p.Arg264=
ENST00000314589.9:c.1063C=	ENSP00000324443.5:p.Arg355=
ENST00000328528.10:c.1108C=	ENSP00000327867.6:p.Arg370=
ENST00000352241.8:c.1111C=	ENSP00000295600.7:p.Arg371=
ENST00000394351.7:c.808C=	ENSP00000377880.3:p.Arg270=
ENST00000448226.6:c.1129C=	ENSP00000391803.2:p.Arg377=
ENST00000451708.5:c.1081C=	ENSP00000398639.1:p.Arg361=
ENST00000472437.5:c.955C=	ENSP00000418845.1:p.Arg319=
ENST00000478490.5:c.*455C=	ENSP00000433487.1:n.*455C=
ENST00000531774.1:c.622C=	ENSP00000435909.1:p.Arg208=
NM_000248.3:c.808C= , LRG_776t1:c.808C=	NP_000239.1:p.Arg270=
NM_001184967.1:c.955C=	NP_001171896.1:p.Arg319=
NM_006722.2:c.1108C=	NP_006713.1:p.Arg370=
NM_198158.2:c.790C=	NP_937801.1:p.Arg264=
NM_198159.2:c.1111C=	NP_937802.1:p.Arg371=
NM_198177.2:c.1063C=	NP_937820.1:p.Arg355=
NM_198178.2:c.622C=	NP_937821.2:p.Arg208=
XM_005264754.1:c.1129C=	XP_005264811.1:p.Arg377=
XM_005264755.2:c.1081C=	XP_005264812.1:p.Arg361=
XM_006713164.2:c.973C=	XP_006713227.1:p.Arg325=
XM_011533722.1:c.1126C=	XP_011532024.1:p.Arg376=
XM_011533723.1:c.1078C=	XP_011532025.1:p.Arg360=
XM_011533724.1:c.973C=	XP_011532026.1:p.Arg325=
XM_011533725.1:c.961C=	XP_011532027.1:p.Arg321=
XM_011533726.1:c.943C=	XP_011532028.1:p.Arg315=
NM_001354604.1:c.1129C=	NP_001341533.1:p.Arg377=
NM_001354605.1:c.1126C=	NP_001341534.1:p.Arg376=
NM_001354606.1:c.1108C=	NP_001341535.1:p.Arg370=
NM_001354607.1:c.1060C=	NP_001341536.1:p.Arg354=
NM_001354608.1:c.955C=	NP_001341537.1:p.Arg319=
NM_001184967.2:c.955C=	NP_001171896.1:p.Arg319=
NM_001354604.2:c.1129C= MANE Select	NP_001341533.1:p.Arg377=
NM_001354605.2:c.1126C=	NP_001341534.1:p.Arg376=
NM_001354606.2:c.1108C=	NP_001341535.1:p.Arg370=
NM_001354607.2:c.1060C=	NP_001341536.1:p.Arg354=
NM_001354608.2:c.955C=	NP_001341537.1:p.Arg319=
NM_198158.3:c.790C=	NP_937801.1:p.Arg264=
NM_198159.3:c.1111C=	NP_937802.1:p.Arg371=
NM_198177.3:c.1063C=	NP_937820.1:p.Arg355=
NM_198178.3:c.622C=	NP_937821.2:p.Arg208=
NM_000248.4:c.808C= MANE Plus Clinical	NP_000239.1:p.Arg270=
NM_006722.3:c.1108C=	NP_006713.1:p.Arg370=