Canonical Allele Identifier: CA1373414288

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965065G= , CM000665.2:g.69965065G=	GRCh38
NC_000003.11:g.70014216G= , CM000665.1:g.70014216G=	GRCh37
NC_000003.10:g.70096906G=	NCBI36
NG_011631.1:g.230584G= , LRG_776:g.230584G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1332G=	ENSP00000324443.5:p.Glu444=
ENST00000687384.1:c.1329G=	ENSP00000510225.1:p.Glu443=
ENST00000689390.1:n.1554G=
ENST00000693031.1:c.1305G=	ENSP00000509845.1:p.Glu435=
ENST00000693549.1:c.*143G=	ENSP00000509358.1:n.*143G=
ENST00000314589.10:c.1332G=	ENSP00000324443.5:p.Glu444=
ENST00000352241.9:c.1398G= MANE Select	ENSP00000295600.8:p.Glu466=
ENST00000394351.9:c.1077G= MANE Plus Clinical	ENSP00000377880.3:p.Glu359=
ENST00000448226.9:c.1377G=	ENSP00000391803.3:p.Glu459=
ENST00000642352.1:c.1380G=	ENSP00000494105.1:p.Glu460=
ENST00000314557.10:c.1059G=	ENSP00000324246.6:p.Glu353=
ENST00000314589.9:c.1332G=	ENSP00000324443.5:p.Glu444=
ENST00000328528.10:c.1377G=	ENSP00000327867.6:p.Glu459=
ENST00000352241.8:c.1380G=	ENSP00000295600.7:p.Glu460=
ENST00000394351.7:c.1077G=	ENSP00000377880.3:p.Glu359=
ENST00000448226.6:c.1398G=	ENSP00000391803.2:p.Glu466=
ENST00000472437.5:c.1224G=	ENSP00000418845.1:p.Glu408=
ENST00000478490.5:c.*724G=	ENSP00000433487.1:n.*724G=
ENST00000531774.1:c.891G=	ENSP00000435909.1:p.Glu297=
NM_000248.3:c.1077G= , LRG_776t1:c.1077G=	NP_000239.1:p.Glu359=
NM_001184967.1:c.1224G=	NP_001171896.1:p.Glu408=
NM_006722.2:c.1377G=	NP_006713.1:p.Glu459=
NM_198158.2:c.1059G=	NP_937801.1:p.Glu353=
NM_198159.2:c.1380G=	NP_937802.1:p.Glu460=
NM_198177.2:c.1332G=	NP_937820.1:p.Glu444=
NM_198178.2:c.891G=	NP_937821.2:p.Glu297=
XM_005264754.1:c.1398G=	XP_005264811.1:p.Glu466=
XM_005264755.2:c.1350G=	XP_005264812.1:p.Glu450=
XM_006713164.2:c.1242G=	XP_006713227.1:p.Glu414=
XM_011533722.1:c.1395G=	XP_011532024.1:p.Glu465=
XM_011533723.1:c.1347G=	XP_011532025.1:p.Glu449=
XM_011533724.1:c.1242G=	XP_011532026.1:p.Glu414=
XM_011533725.1:c.1230G=	XP_011532027.1:p.Glu410=
XM_011533726.1:c.1212G=	XP_011532028.1:p.Glu404=
NM_001354604.1:c.1398G=	NP_001341533.1:p.Glu466=
NM_001354605.1:c.1395G=	NP_001341534.1:p.Glu465=
NM_001354606.1:c.1377G=	NP_001341535.1:p.Glu459=
NM_001354607.1:c.1329G=	NP_001341536.1:p.Glu443=
NM_001354608.1:c.1224G=	NP_001341537.1:p.Glu408=
NM_001184967.2:c.1224G=	NP_001171896.1:p.Glu408=
NM_001354604.2:c.1398G= MANE Select	NP_001341533.1:p.Glu466=
NM_001354605.2:c.1395G=	NP_001341534.1:p.Glu465=
NM_001354606.2:c.1377G=	NP_001341535.1:p.Glu459=
NM_001354607.2:c.1329G=	NP_001341536.1:p.Glu443=
NM_001354608.2:c.1224G=	NP_001341537.1:p.Glu408=
NM_198158.3:c.1059G=	NP_937801.1:p.Glu353=
NM_198159.3:c.1380G=	NP_937802.1:p.Glu460=
NM_198177.3:c.1332G=	NP_937820.1:p.Glu444=
NM_198178.3:c.891G=	NP_937821.2:p.Glu297=
NM_000248.4:c.1077G= MANE Plus Clinical	NP_000239.1:p.Glu359=
NM_006722.3:c.1377G=	NP_006713.1:p.Glu459=