Canonical Allele Identifier: CA1373414095

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69964978G= , CM000665.2:g.69964978G=	GRCh38
NC_000003.11:g.70014129G= , CM000665.1:g.70014129G=	GRCh37
NC_000003.10:g.70096819G=	NCBI36
NG_011631.1:g.230497G= , LRG_776:g.230497G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1245G=	ENSP00000324443.5:p.Gln415=
ENST00000687384.1:c.1242G=	ENSP00000510225.1:p.Gln414=
ENST00000689390.1:n.1467G=
ENST00000693031.1:c.1218G=	ENSP00000509845.1:p.Gln406=
ENST00000693549.1:c.*56G=	ENSP00000509358.1:n.*56G=
ENST00000314589.10:c.1245G=	ENSP00000324443.5:p.Gln415=
ENST00000352241.9:c.1311G= MANE Select	ENSP00000295600.8:p.Gln437=
ENST00000394351.9:c.990G= MANE Plus Clinical	ENSP00000377880.3:p.Gln330=
ENST00000448226.9:c.1290G=	ENSP00000391803.3:p.Gln430=
ENST00000642352.1:c.1293G=	ENSP00000494105.1:p.Gln431=
ENST00000314557.10:c.972G=	ENSP00000324246.6:p.Gln324=
ENST00000314589.9:c.1245G=	ENSP00000324443.5:p.Gln415=
ENST00000328528.10:c.1290G=	ENSP00000327867.6:p.Gln430=
ENST00000352241.8:c.1293G=	ENSP00000295600.7:p.Gln431=
ENST00000394351.7:c.990G=	ENSP00000377880.3:p.Gln330=
ENST00000448226.6:c.1311G=	ENSP00000391803.2:p.Gln437=
ENST00000472437.5:c.1137G=	ENSP00000418845.1:p.Gln379=
ENST00000478490.5:c.*637G=	ENSP00000433487.1:n.*637G=
ENST00000531774.1:c.804G=	ENSP00000435909.1:p.Gln268=
NM_000248.3:c.990G= , LRG_776t1:c.990G=	NP_000239.1:p.Gln330=
NM_001184967.1:c.1137G=	NP_001171896.1:p.Gln379=
NM_006722.2:c.1290G=	NP_006713.1:p.Gln430=
NM_198158.2:c.972G=	NP_937801.1:p.Gln324=
NM_198159.2:c.1293G=	NP_937802.1:p.Gln431=
NM_198177.2:c.1245G=	NP_937820.1:p.Gln415=
NM_198178.2:c.804G=	NP_937821.2:p.Gln268=
XM_005264754.1:c.1311G=	XP_005264811.1:p.Gln437=
XM_005264755.2:c.1263G=	XP_005264812.1:p.Gln421=
XM_006713164.2:c.1155G=	XP_006713227.1:p.Gln385=
XM_011533722.1:c.1308G=	XP_011532024.1:p.Gln436=
XM_011533723.1:c.1260G=	XP_011532025.1:p.Gln420=
XM_011533724.1:c.1155G=	XP_011532026.1:p.Gln385=
XM_011533725.1:c.1143G=	XP_011532027.1:p.Gln381=
XM_011533726.1:c.1125G=	XP_011532028.1:p.Gln375=
NM_001354604.1:c.1311G=	NP_001341533.1:p.Gln437=
NM_001354605.1:c.1308G=	NP_001341534.1:p.Gln436=
NM_001354606.1:c.1290G=	NP_001341535.1:p.Gln430=
NM_001354607.1:c.1242G=	NP_001341536.1:p.Gln414=
NM_001354608.1:c.1137G=	NP_001341537.1:p.Gln379=
NM_001184967.2:c.1137G=	NP_001171896.1:p.Gln379=
NM_001354604.2:c.1311G= MANE Select	NP_001341533.1:p.Gln437=
NM_001354605.2:c.1308G=	NP_001341534.1:p.Gln436=
NM_001354606.2:c.1290G=	NP_001341535.1:p.Gln430=
NM_001354607.2:c.1242G=	NP_001341536.1:p.Gln414=
NM_001354608.2:c.1137G=	NP_001341537.1:p.Gln379=
NM_198158.3:c.972G=	NP_937801.1:p.Gln324=
NM_198159.3:c.1293G=	NP_937802.1:p.Gln431=
NM_198177.3:c.1245G=	NP_937820.1:p.Gln415=
NM_198178.3:c.804G=	NP_937821.2:p.Gln268=
NM_000248.4:c.990G= MANE Plus Clinical	NP_000239.1:p.Gln330=
NM_006722.3:c.1290G=	NP_006713.1:p.Gln430=