Canonical Allele Identifier: CA1373414431

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965149T= , CM000665.2:g.69965149T=	GRCh38
NC_000003.11:g.70014300T= , CM000665.1:g.70014300T=	GRCh37
NC_000003.10:g.70096990T=	NCBI36
NG_011631.1:g.230668T= , LRG_776:g.230668T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1416T=	ENSP00000324443.5:p.Gly472=
ENST00000687384.1:c.1413T=	ENSP00000510225.1:p.Gly471=
ENST00000689390.1:n.1638T=
ENST00000693031.1:c.1389T=	ENSP00000509845.1:p.Gly463=
ENST00000693549.1:c.*227T=	ENSP00000509358.1:n.*227T=
ENST00000314589.10:c.1416T=	ENSP00000324443.5:p.Gly472=
ENST00000352241.9:c.1482T= MANE Select	ENSP00000295600.8:p.Gly494=
ENST00000394351.9:c.1161T= MANE Plus Clinical	ENSP00000377880.3:p.Gly387=
ENST00000448226.9:c.1461T=	ENSP00000391803.3:p.Gly487=
ENST00000642352.1:c.1464T=	ENSP00000494105.1:p.Gly488=
ENST00000314557.10:c.1143T=	ENSP00000324246.6:p.Gly381=
ENST00000314589.9:c.1416T=	ENSP00000324443.5:p.Gly472=
ENST00000328528.10:c.1461T=	ENSP00000327867.6:p.Gly487=
ENST00000352241.8:c.1464T=	ENSP00000295600.7:p.Gly488=
ENST00000394351.7:c.1161T=	ENSP00000377880.3:p.Gly387=
ENST00000448226.6:c.1482T=	ENSP00000391803.2:p.Gly494=
ENST00000472437.5:c.1308T=	ENSP00000418845.1:p.Gly436=
ENST00000478490.5:c.*808T=	ENSP00000433487.1:n.*808T=
ENST00000531774.1:c.975T=	ENSP00000435909.1:p.Gly325=
NM_000248.3:c.1161T= , LRG_776t1:c.1161T=	NP_000239.1:p.Gly387=
NM_001184967.1:c.1308T=	NP_001171896.1:p.Gly436=
NM_006722.2:c.1461T=	NP_006713.1:p.Gly487=
NM_198158.2:c.1143T=	NP_937801.1:p.Gly381=
NM_198159.2:c.1464T=	NP_937802.1:p.Gly488=
NM_198177.2:c.1416T=	NP_937820.1:p.Gly472=
NM_198178.2:c.975T=	NP_937821.2:p.Gly325=
XM_005264754.1:c.1482T=	XP_005264811.1:p.Gly494=
XM_005264755.2:c.1434T=	XP_005264812.1:p.Gly478=
XM_006713164.2:c.1326T=	XP_006713227.1:p.Gly442=
XM_011533722.1:c.1479T=	XP_011532024.1:p.Gly493=
XM_011533723.1:c.1431T=	XP_011532025.1:p.Gly477=
XM_011533724.1:c.1326T=	XP_011532026.1:p.Gly442=
XM_011533725.1:c.1314T=	XP_011532027.1:p.Gly438=
XM_011533726.1:c.1296T=	XP_011532028.1:p.Gly432=
NM_001354604.1:c.1482T=	NP_001341533.1:p.Gly494=
NM_001354605.1:c.1479T=	NP_001341534.1:p.Gly493=
NM_001354606.1:c.1461T=	NP_001341535.1:p.Gly487=
NM_001354607.1:c.1413T=	NP_001341536.1:p.Gly471=
NM_001354608.1:c.1308T=	NP_001341537.1:p.Gly436=
NM_001184967.2:c.1308T=	NP_001171896.1:p.Gly436=
NM_001354604.2:c.1482T= MANE Select	NP_001341533.1:p.Gly494=
NM_001354605.2:c.1479T=	NP_001341534.1:p.Gly493=
NM_001354606.2:c.1461T=	NP_001341535.1:p.Gly487=
NM_001354607.2:c.1413T=	NP_001341536.1:p.Gly471=
NM_001354608.2:c.1308T=	NP_001341537.1:p.Gly436=
NM_198158.3:c.1143T=	NP_937801.1:p.Gly381=
NM_198159.3:c.1464T=	NP_937802.1:p.Gly488=
NM_198177.3:c.1416T=	NP_937820.1:p.Gly472=
NM_198178.3:c.975T=	NP_937821.2:p.Gly325=
NM_000248.4:c.1161T= MANE Plus Clinical	NP_000239.1:p.Gly387=
NM_006722.3:c.1461T=	NP_006713.1:p.Gly487=