Canonical Allele Identifier: CA1373450894

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69959325C= , CM000665.2:g.69959325C=	GRCh38
NC_000003.11:g.70008476C= , CM000665.1:g.70008476C=	GRCh37
NC_000003.10:g.70091166C=	NCBI36
NG_011631.1:g.224844C= , LRG_776:g.224844C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1018C=	ENSP00000324443.5:p.Arg340=
ENST00000687384.1:c.1015C=	ENSP00000510225.1:p.Arg339=
ENST00000689390.1:n.1240C=
ENST00000693031.1:c.991C=	ENSP00000509845.1:p.Arg331=
ENST00000693549.1:c.1018C=	ENSP00000509358.1:p.Arg340=
ENST00000314589.10:c.1018C=	ENSP00000324443.5:p.Arg340=
ENST00000352241.9:c.1084C= MANE Select	ENSP00000295600.8:p.Arg362=
ENST00000394351.9:c.763C= MANE Plus Clinical	ENSP00000377880.3:p.Arg255=
ENST00000448226.9:c.1063C=	ENSP00000391803.3:p.Arg355=
ENST00000642352.1:c.1066C=	ENSP00000494105.1:p.Arg356=
ENST00000314557.10:c.745C=	ENSP00000324246.6:p.Arg249=
ENST00000314589.9:c.1018C=	ENSP00000324443.5:p.Arg340=
ENST00000328528.10:c.1063C=	ENSP00000327867.6:p.Arg355=
ENST00000352241.8:c.1066C=	ENSP00000295600.7:p.Arg356=
ENST00000394351.7:c.763C=	ENSP00000377880.3:p.Arg255=
ENST00000448226.6:c.1084C=	ENSP00000391803.2:p.Arg362=
ENST00000451708.5:c.1036C=	ENSP00000398639.1:p.Arg346=
ENST00000472437.5:c.910C=	ENSP00000418845.1:p.Arg304=
ENST00000478490.5:c.*410C=	ENSP00000433487.1:n.*410C=
ENST00000531774.1:c.577C=	ENSP00000435909.1:p.Arg193=
NM_000248.3:c.763C= , LRG_776t1:c.763C=	NP_000239.1:p.Arg255=
NM_001184967.1:c.910C=	NP_001171896.1:p.Arg304=
NM_006722.2:c.1063C=	NP_006713.1:p.Arg355=
NM_198158.2:c.745C=	NP_937801.1:p.Arg249=
NM_198159.2:c.1066C=	NP_937802.1:p.Arg356=
NM_198177.2:c.1018C=	NP_937820.1:p.Arg340=
NM_198178.2:c.577C=	NP_937821.2:p.Arg193=
XM_005264754.1:c.1084C=	XP_005264811.1:p.Arg362=
XM_005264755.2:c.1036C=	XP_005264812.1:p.Arg346=
XM_006713164.2:c.928C=	XP_006713227.1:p.Arg310=
XM_011533722.1:c.1081C=	XP_011532024.1:p.Arg361=
XM_011533723.1:c.1033C=	XP_011532025.1:p.Arg345=
XM_011533724.1:c.928C=	XP_011532026.1:p.Arg310=
XM_011533725.1:c.916C=	XP_011532027.1:p.Arg306=
XM_011533726.1:c.898C=	XP_011532028.1:p.Arg300=
NM_001354604.1:c.1084C=	NP_001341533.1:p.Arg362=
NM_001354605.1:c.1081C=	NP_001341534.1:p.Arg361=
NM_001354606.1:c.1063C=	NP_001341535.1:p.Arg355=
NM_001354607.1:c.1015C=	NP_001341536.1:p.Arg339=
NM_001354608.1:c.910C=	NP_001341537.1:p.Arg304=
NM_001184967.2:c.910C=	NP_001171896.1:p.Arg304=
NM_001354604.2:c.1084C= MANE Select	NP_001341533.1:p.Arg362=
NM_001354605.2:c.1081C=	NP_001341534.1:p.Arg361=
NM_001354606.2:c.1063C=	NP_001341535.1:p.Arg355=
NM_001354607.2:c.1015C=	NP_001341536.1:p.Arg339=
NM_001354608.2:c.910C=	NP_001341537.1:p.Arg304=
NM_198158.3:c.745C=	NP_937801.1:p.Arg249=
NM_198159.3:c.1066C=	NP_937802.1:p.Arg356=
NM_198177.3:c.1018C=	NP_937820.1:p.Arg340=
NM_198178.3:c.577C=	NP_937821.2:p.Arg193=
NM_000248.4:c.763C= MANE Plus Clinical	NP_000239.1:p.Arg255=
NM_006722.3:c.1063C=	NP_006713.1:p.Arg355=