Canonical Allele Identifier: CA1373414133

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69964998G= , CM000665.2:g.69964998G=	GRCh38
NC_000003.11:g.70014149G= , CM000665.1:g.70014149G=	GRCh37
NC_000003.10:g.70096839G=	NCBI36
NG_011631.1:g.230517G= , LRG_776:g.230517G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1265G=	ENSP00000324443.5:p.Cys422=
ENST00000687384.1:c.1262G=	ENSP00000510225.1:p.Cys421=
ENST00000689390.1:n.1487G=
ENST00000693031.1:c.1238G=	ENSP00000509845.1:p.Cys413=
ENST00000693549.1:c.*76G=	ENSP00000509358.1:n.*76G=
ENST00000314589.10:c.1265G=	ENSP00000324443.5:p.Cys422=
ENST00000352241.9:c.1331G= MANE Select	ENSP00000295600.8:p.Cys444=
ENST00000394351.9:c.1010G= MANE Plus Clinical	ENSP00000377880.3:p.Cys337=
ENST00000448226.9:c.1310G=	ENSP00000391803.3:p.Cys437=
ENST00000642352.1:c.1313G=	ENSP00000494105.1:p.Cys438=
ENST00000314557.10:c.992G=	ENSP00000324246.6:p.Cys331=
ENST00000314589.9:c.1265G=	ENSP00000324443.5:p.Cys422=
ENST00000328528.10:c.1310G=	ENSP00000327867.6:p.Cys437=
ENST00000352241.8:c.1313G=	ENSP00000295600.7:p.Cys438=
ENST00000394351.7:c.1010G=	ENSP00000377880.3:p.Cys337=
ENST00000448226.6:c.1331G=	ENSP00000391803.2:p.Cys444=
ENST00000472437.5:c.1157G=	ENSP00000418845.1:p.Cys386=
ENST00000478490.5:c.*657G=	ENSP00000433487.1:n.*657G=
ENST00000531774.1:c.824G=	ENSP00000435909.1:p.Cys275=
NM_000248.3:c.1010G= , LRG_776t1:c.1010G=	NP_000239.1:p.Cys337=
NM_001184967.1:c.1157G=	NP_001171896.1:p.Cys386=
NM_006722.2:c.1310G=	NP_006713.1:p.Cys437=
NM_198158.2:c.992G=	NP_937801.1:p.Cys331=
NM_198159.2:c.1313G=	NP_937802.1:p.Cys438=
NM_198177.2:c.1265G=	NP_937820.1:p.Cys422=
NM_198178.2:c.824G=	NP_937821.2:p.Cys275=
XM_005264754.1:c.1331G=	XP_005264811.1:p.Cys444=
XM_005264755.2:c.1283G=	XP_005264812.1:p.Cys428=
XM_006713164.2:c.1175G=	XP_006713227.1:p.Cys392=
XM_011533722.1:c.1328G=	XP_011532024.1:p.Cys443=
XM_011533723.1:c.1280G=	XP_011532025.1:p.Cys427=
XM_011533724.1:c.1175G=	XP_011532026.1:p.Cys392=
XM_011533725.1:c.1163G=	XP_011532027.1:p.Cys388=
XM_011533726.1:c.1145G=	XP_011532028.1:p.Cys382=
NM_001354604.1:c.1331G=	NP_001341533.1:p.Cys444=
NM_001354605.1:c.1328G=	NP_001341534.1:p.Cys443=
NM_001354606.1:c.1310G=	NP_001341535.1:p.Cys437=
NM_001354607.1:c.1262G=	NP_001341536.1:p.Cys421=
NM_001354608.1:c.1157G=	NP_001341537.1:p.Cys386=
NM_001184967.2:c.1157G=	NP_001171896.1:p.Cys386=
NM_001354604.2:c.1331G= MANE Select	NP_001341533.1:p.Cys444=
NM_001354605.2:c.1328G=	NP_001341534.1:p.Cys443=
NM_001354606.2:c.1310G=	NP_001341535.1:p.Cys437=
NM_001354607.2:c.1262G=	NP_001341536.1:p.Cys421=
NM_001354608.2:c.1157G=	NP_001341537.1:p.Cys386=
NM_198158.3:c.992G=	NP_937801.1:p.Cys331=
NM_198159.3:c.1313G=	NP_937802.1:p.Cys438=
NM_198177.3:c.1265G=	NP_937820.1:p.Cys422=
NM_198178.3:c.824G=	NP_937821.2:p.Cys275=
NM_000248.4:c.1010G= MANE Plus Clinical	NP_000239.1:p.Cys337=
NM_006722.3:c.1310G=	NP_006713.1:p.Cys437=