Canonical Allele Identifier: CA1373433832

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69941236A= , CM000665.2:g.69941236A=	GRCh38
NC_000003.11:g.69990387A= , CM000665.1:g.69990387A=	GRCh37
NC_000003.10:g.70073077A=	NCBI36
NG_011631.1:g.206755A= , LRG_776:g.206755A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.619A=	ENSP00000324443.5:p.Met207=
ENST00000687384.1:c.616A=	ENSP00000510225.1:p.Met206=
ENST00000689390.1:n.841A=
ENST00000693031.1:c.592A=	ENSP00000509845.1:p.Met198=
ENST00000693549.1:c.619A=	ENSP00000509358.1:p.Met207=
ENST00000314589.10:c.619A=	ENSP00000324443.5:p.Met207=
ENST00000352241.9:c.667A= MANE Select	ENSP00000295600.8:p.Met223=
ENST00000394351.9:c.346A= MANE Plus Clinical	ENSP00000377880.3:p.Met116=
ENST00000448226.9:c.664A=	ENSP00000391803.3:p.Met222=
ENST00000642352.1:c.667A=	ENSP00000494105.1:p.Met223=
ENST00000314557.10:c.346A=	ENSP00000324246.6:p.Met116=
ENST00000314589.9:c.619A=	ENSP00000324443.5:p.Met207=
ENST00000328528.10:c.664A=	ENSP00000327867.6:p.Met222=
ENST00000352241.8:c.667A=	ENSP00000295600.7:p.Met223=
ENST00000394351.7:c.346A=	ENSP00000377880.3:p.Met116=
ENST00000433517.5:c.343A=	ENSP00000411389.1:p.Met115=
ENST00000448226.6:c.667A=	ENSP00000391803.2:p.Met223=
ENST00000451708.5:c.619A=	ENSP00000398639.1:p.Met207=
ENST00000461014.1:n.657A=
ENST00000472437.5:c.511A=	ENSP00000418845.1:p.Met171=
ENST00000478490.5:c.311A=	ENSP00000433487.1:p.Asp104=
ENST00000531774.1:c.178A=	ENSP00000435909.1:p.Met60=
NM_000248.3:c.346A= , LRG_776t1:c.346A=	NP_000239.1:p.Met116=
NM_001184967.1:c.511A=	NP_001171896.1:p.Met171=
NM_006722.2:c.664A=	NP_006713.1:p.Met222=
NM_198158.2:c.346A=	NP_937801.1:p.Met116=
NM_198159.2:c.667A=	NP_937802.1:p.Met223=
NM_198177.2:c.619A=	NP_937820.1:p.Met207=
NM_198178.2:c.178A=	NP_937821.2:p.Met60=
XM_005264754.1:c.667A=	XP_005264811.1:p.Met223=
XM_005264755.2:c.619A=	XP_005264812.1:p.Met207=
XM_006713164.2:c.511A=	XP_006713227.1:p.Met171=
XM_011533722.1:c.664A=	XP_011532024.1:p.Met222=
XM_011533723.1:c.616A=	XP_011532025.1:p.Met206=
XM_011533724.1:c.511A=	XP_011532026.1:p.Met171=
XM_011533725.1:c.499A=	XP_011532027.1:p.Met167=
XM_011533726.1:c.499A=	XP_011532028.1:p.Met167=
NM_001354604.1:c.667A=	NP_001341533.1:p.Met223=
NM_001354605.1:c.664A=	NP_001341534.1:p.Met222=
NM_001354606.1:c.664A=	NP_001341535.1:p.Met222=
NM_001354607.1:c.616A=	NP_001341536.1:p.Met206=
NM_001354608.1:c.511A=	NP_001341537.1:p.Met171=
NM_001184967.2:c.511A=	NP_001171896.1:p.Met171=
NM_001354604.2:c.667A= MANE Select	NP_001341533.1:p.Met223=
NM_001354605.2:c.664A=	NP_001341534.1:p.Met222=
NM_001354606.2:c.664A=	NP_001341535.1:p.Met222=
NM_001354607.2:c.616A=	NP_001341536.1:p.Met206=
NM_001354608.2:c.511A=	NP_001341537.1:p.Met171=
NM_198158.3:c.346A=	NP_937801.1:p.Met116=
NM_198159.3:c.667A=	NP_937802.1:p.Met223=
NM_198177.3:c.619A=	NP_937820.1:p.Met207=
NM_198178.3:c.178A=	NP_937821.2:p.Met60=
NM_000248.4:c.346A= MANE Plus Clinical	NP_000239.1:p.Met116=
NM_006722.3:c.664A=	NP_006713.1:p.Met222=