Canonical Allele Identifier: CA1373414396

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965132A= , CM000665.2:g.69965132A=	GRCh38
NC_000003.11:g.70014283A= , CM000665.1:g.70014283A=	GRCh37
NC_000003.10:g.70096973A=	NCBI36
NG_011631.1:g.230651A= , LRG_776:g.230651A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1399A=	ENSP00000324443.5:p.Thr467=
ENST00000687384.1:c.1396A=	ENSP00000510225.1:p.Thr466=
ENST00000689390.1:n.1621A=
ENST00000693031.1:c.1372A=	ENSP00000509845.1:p.Thr458=
ENST00000693549.1:c.*210A=	ENSP00000509358.1:n.*210A=
ENST00000314589.10:c.1399A=	ENSP00000324443.5:p.Thr467=
ENST00000352241.9:c.1465A= MANE Select	ENSP00000295600.8:p.Thr489=
ENST00000394351.9:c.1144A= MANE Plus Clinical	ENSP00000377880.3:p.Thr382=
ENST00000448226.9:c.1444A=	ENSP00000391803.3:p.Thr482=
ENST00000642352.1:c.1447A=	ENSP00000494105.1:p.Thr483=
ENST00000314557.10:c.1126A=	ENSP00000324246.6:p.Thr376=
ENST00000314589.9:c.1399A=	ENSP00000324443.5:p.Thr467=
ENST00000328528.10:c.1444A=	ENSP00000327867.6:p.Thr482=
ENST00000352241.8:c.1447A=	ENSP00000295600.7:p.Thr483=
ENST00000394351.7:c.1144A=	ENSP00000377880.3:p.Thr382=
ENST00000448226.6:c.1465A=	ENSP00000391803.2:p.Thr489=
ENST00000472437.5:c.1291A=	ENSP00000418845.1:p.Thr431=
ENST00000478490.5:c.*791A=	ENSP00000433487.1:n.*791A=
ENST00000531774.1:c.958A=	ENSP00000435909.1:p.Thr320=
NM_000248.3:c.1144A= , LRG_776t1:c.1144A=	NP_000239.1:p.Thr382=
NM_001184967.1:c.1291A=	NP_001171896.1:p.Thr431=
NM_006722.2:c.1444A=	NP_006713.1:p.Thr482=
NM_198158.2:c.1126A=	NP_937801.1:p.Thr376=
NM_198159.2:c.1447A=	NP_937802.1:p.Thr483=
NM_198177.2:c.1399A=	NP_937820.1:p.Thr467=
NM_198178.2:c.958A=	NP_937821.2:p.Thr320=
XM_005264754.1:c.1465A=	XP_005264811.1:p.Thr489=
XM_005264755.2:c.1417A=	XP_005264812.1:p.Thr473=
XM_006713164.2:c.1309A=	XP_006713227.1:p.Thr437=
XM_011533722.1:c.1462A=	XP_011532024.1:p.Thr488=
XM_011533723.1:c.1414A=	XP_011532025.1:p.Thr472=
XM_011533724.1:c.1309A=	XP_011532026.1:p.Thr437=
XM_011533725.1:c.1297A=	XP_011532027.1:p.Thr433=
XM_011533726.1:c.1279A=	XP_011532028.1:p.Thr427=
NM_001354604.1:c.1465A=	NP_001341533.1:p.Thr489=
NM_001354605.1:c.1462A=	NP_001341534.1:p.Thr488=
NM_001354606.1:c.1444A=	NP_001341535.1:p.Thr482=
NM_001354607.1:c.1396A=	NP_001341536.1:p.Thr466=
NM_001354608.1:c.1291A=	NP_001341537.1:p.Thr431=
NM_001184967.2:c.1291A=	NP_001171896.1:p.Thr431=
NM_001354604.2:c.1465A= MANE Select	NP_001341533.1:p.Thr489=
NM_001354605.2:c.1462A=	NP_001341534.1:p.Thr488=
NM_001354606.2:c.1444A=	NP_001341535.1:p.Thr482=
NM_001354607.2:c.1396A=	NP_001341536.1:p.Thr466=
NM_001354608.2:c.1291A=	NP_001341537.1:p.Thr431=
NM_198158.3:c.1126A=	NP_937801.1:p.Thr376=
NM_198159.3:c.1447A=	NP_937802.1:p.Thr483=
NM_198177.3:c.1399A=	NP_937820.1:p.Thr467=
NM_198178.3:c.958A=	NP_937821.2:p.Thr320=
NM_000248.4:c.1144A= MANE Plus Clinical	NP_000239.1:p.Thr382=
NM_006722.3:c.1444A=	NP_006713.1:p.Thr482=