Canonical Allele Identifier: CA1373414403

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965135C= , CM000665.2:g.69965135C=	GRCh38
NC_000003.11:g.70014286C= , CM000665.1:g.70014286C=	GRCh37
NC_000003.10:g.70096976C=	NCBI36
NG_011631.1:g.230654C= , LRG_776:g.230654C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1402C=	ENSP00000324443.5:p.Leu468=
ENST00000687384.1:c.1399C=	ENSP00000510225.1:p.Leu467=
ENST00000689390.1:n.1624C=
ENST00000693031.1:c.1375C=	ENSP00000509845.1:p.Leu459=
ENST00000693549.1:c.*213C=	ENSP00000509358.1:n.*213C=
ENST00000314589.10:c.1402C=	ENSP00000324443.5:p.Leu468=
ENST00000352241.9:c.1468C= MANE Select	ENSP00000295600.8:p.Leu490=
ENST00000394351.9:c.1147C= MANE Plus Clinical	ENSP00000377880.3:p.Leu383=
ENST00000448226.9:c.1447C=	ENSP00000391803.3:p.Leu483=
ENST00000642352.1:c.1450C=	ENSP00000494105.1:p.Leu484=
ENST00000314557.10:c.1129C=	ENSP00000324246.6:p.Leu377=
ENST00000314589.9:c.1402C=	ENSP00000324443.5:p.Leu468=
ENST00000328528.10:c.1447C=	ENSP00000327867.6:p.Leu483=
ENST00000352241.8:c.1450C=	ENSP00000295600.7:p.Leu484=
ENST00000394351.7:c.1147C=	ENSP00000377880.3:p.Leu383=
ENST00000448226.6:c.1468C=	ENSP00000391803.2:p.Leu490=
ENST00000472437.5:c.1294C=	ENSP00000418845.1:p.Leu432=
ENST00000478490.5:c.*794C=	ENSP00000433487.1:n.*794C=
ENST00000531774.1:c.961C=	ENSP00000435909.1:p.Leu321=
NM_000248.3:c.1147C= , LRG_776t1:c.1147C=	NP_000239.1:p.Leu383=
NM_001184967.1:c.1294C=	NP_001171896.1:p.Leu432=
NM_006722.2:c.1447C=	NP_006713.1:p.Leu483=
NM_198158.2:c.1129C=	NP_937801.1:p.Leu377=
NM_198159.2:c.1450C=	NP_937802.1:p.Leu484=
NM_198177.2:c.1402C=	NP_937820.1:p.Leu468=
NM_198178.2:c.961C=	NP_937821.2:p.Leu321=
XM_005264754.1:c.1468C=	XP_005264811.1:p.Leu490=
XM_005264755.2:c.1420C=	XP_005264812.1:p.Leu474=
XM_006713164.2:c.1312C=	XP_006713227.1:p.Leu438=
XM_011533722.1:c.1465C=	XP_011532024.1:p.Leu489=
XM_011533723.1:c.1417C=	XP_011532025.1:p.Leu473=
XM_011533724.1:c.1312C=	XP_011532026.1:p.Leu438=
XM_011533725.1:c.1300C=	XP_011532027.1:p.Leu434=
XM_011533726.1:c.1282C=	XP_011532028.1:p.Leu428=
NM_001354604.1:c.1468C=	NP_001341533.1:p.Leu490=
NM_001354605.1:c.1465C=	NP_001341534.1:p.Leu489=
NM_001354606.1:c.1447C=	NP_001341535.1:p.Leu483=
NM_001354607.1:c.1399C=	NP_001341536.1:p.Leu467=
NM_001354608.1:c.1294C=	NP_001341537.1:p.Leu432=
NM_001184967.2:c.1294C=	NP_001171896.1:p.Leu432=
NM_001354604.2:c.1468C= MANE Select	NP_001341533.1:p.Leu490=
NM_001354605.2:c.1465C=	NP_001341534.1:p.Leu489=
NM_001354606.2:c.1447C=	NP_001341535.1:p.Leu483=
NM_001354607.2:c.1399C=	NP_001341536.1:p.Leu467=
NM_001354608.2:c.1294C=	NP_001341537.1:p.Leu432=
NM_198158.3:c.1129C=	NP_937801.1:p.Leu377=
NM_198159.3:c.1450C=	NP_937802.1:p.Leu484=
NM_198177.3:c.1402C=	NP_937820.1:p.Leu468=
NM_198178.3:c.961C=	NP_937821.2:p.Leu321=
NM_000248.4:c.1147C= MANE Plus Clinical	NP_000239.1:p.Leu383=
NM_006722.3:c.1447C=	NP_006713.1:p.Leu483=