Canonical Allele Identifier: CA1373414305

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965073A= , CM000665.2:g.69965073A=	GRCh38
NC_000003.11:g.70014224A= , CM000665.1:g.70014224A=	GRCh37
NC_000003.10:g.70096914A=	NCBI36
NG_011631.1:g.230592A= , LRG_776:g.230592A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1340A=	ENSP00000324443.5:p.Gln447=
ENST00000687384.1:c.1337A=	ENSP00000510225.1:p.Gln446=
ENST00000689390.1:n.1562A=
ENST00000693031.1:c.1313A=	ENSP00000509845.1:p.Gln438=
ENST00000693549.1:c.*151A=	ENSP00000509358.1:n.*151A=
ENST00000314589.10:c.1340A=	ENSP00000324443.5:p.Gln447=
ENST00000352241.9:c.1406A= MANE Select	ENSP00000295600.8:p.Gln469=
ENST00000394351.9:c.1085A= MANE Plus Clinical	ENSP00000377880.3:p.Gln362=
ENST00000448226.9:c.1385A=	ENSP00000391803.3:p.Gln462=
ENST00000642352.1:c.1388A=	ENSP00000494105.1:p.Gln463=
ENST00000314557.10:c.1067A=	ENSP00000324246.6:p.Gln356=
ENST00000314589.9:c.1340A=	ENSP00000324443.5:p.Gln447=
ENST00000328528.10:c.1385A=	ENSP00000327867.6:p.Gln462=
ENST00000352241.8:c.1388A=	ENSP00000295600.7:p.Gln463=
ENST00000394351.7:c.1085A=	ENSP00000377880.3:p.Gln362=
ENST00000448226.6:c.1406A=	ENSP00000391803.2:p.Gln469=
ENST00000472437.5:c.1232A=	ENSP00000418845.1:p.Gln411=
ENST00000478490.5:c.*732A=	ENSP00000433487.1:n.*732A=
ENST00000531774.1:c.899A=	ENSP00000435909.1:p.Gln300=
NM_000248.3:c.1085A= , LRG_776t1:c.1085A=	NP_000239.1:p.Gln362=
NM_001184967.1:c.1232A=	NP_001171896.1:p.Gln411=
NM_006722.2:c.1385A=	NP_006713.1:p.Gln462=
NM_198158.2:c.1067A=	NP_937801.1:p.Gln356=
NM_198159.2:c.1388A=	NP_937802.1:p.Gln463=
NM_198177.2:c.1340A=	NP_937820.1:p.Gln447=
NM_198178.2:c.899A=	NP_937821.2:p.Gln300=
XM_005264754.1:c.1406A=	XP_005264811.1:p.Gln469=
XM_005264755.2:c.1358A=	XP_005264812.1:p.Gln453=
XM_006713164.2:c.1250A=	XP_006713227.1:p.Gln417=
XM_011533722.1:c.1403A=	XP_011532024.1:p.Gln468=
XM_011533723.1:c.1355A=	XP_011532025.1:p.Gln452=
XM_011533724.1:c.1250A=	XP_011532026.1:p.Gln417=
XM_011533725.1:c.1238A=	XP_011532027.1:p.Gln413=
XM_011533726.1:c.1220A=	XP_011532028.1:p.Gln407=
NM_001354604.1:c.1406A=	NP_001341533.1:p.Gln469=
NM_001354605.1:c.1403A=	NP_001341534.1:p.Gln468=
NM_001354606.1:c.1385A=	NP_001341535.1:p.Gln462=
NM_001354607.1:c.1337A=	NP_001341536.1:p.Gln446=
NM_001354608.1:c.1232A=	NP_001341537.1:p.Gln411=
NM_001184967.2:c.1232A=	NP_001171896.1:p.Gln411=
NM_001354604.2:c.1406A= MANE Select	NP_001341533.1:p.Gln469=
NM_001354605.2:c.1403A=	NP_001341534.1:p.Gln468=
NM_001354606.2:c.1385A=	NP_001341535.1:p.Gln462=
NM_001354607.2:c.1337A=	NP_001341536.1:p.Gln446=
NM_001354608.2:c.1232A=	NP_001341537.1:p.Gln411=
NM_198158.3:c.1067A=	NP_937801.1:p.Gln356=
NM_198159.3:c.1388A=	NP_937802.1:p.Gln463=
NM_198177.3:c.1340A=	NP_937820.1:p.Gln447=
NM_198178.3:c.899A=	NP_937821.2:p.Gln300=
NM_000248.4:c.1085A= MANE Plus Clinical	NP_000239.1:p.Gln362=
NM_006722.3:c.1385A=	NP_006713.1:p.Gln462=