Canonical Allele Identifier: CA1373443584

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69951882C= , CM000665.2:g.69951882C=	GRCh38
NC_000003.11:g.70001033C= , CM000665.1:g.70001033C=	GRCh37
NC_000003.10:g.70083723C=	NCBI36
NG_011631.1:g.217401C= , LRG_776:g.217401C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.885C=	ENSP00000324443.5:p.Asn295=
ENST00000687384.1:c.882C=	ENSP00000510225.1:p.Asn294=
ENST00000689390.1:n.1107C=
ENST00000693031.1:c.858C=	ENSP00000509845.1:p.Asn286=
ENST00000693549.1:c.885C=	ENSP00000509358.1:p.Asn295=
ENST00000314589.10:c.885C=	ENSP00000324443.5:p.Asn295=
ENST00000352241.9:c.951C= MANE Select	ENSP00000295600.8:p.Asn317=
ENST00000394351.9:c.630C= MANE Plus Clinical	ENSP00000377880.3:p.Asn210=
ENST00000448226.9:c.930C=	ENSP00000391803.3:p.Asn310=
ENST00000642352.1:c.933C=	ENSP00000494105.1:p.Asn311=
ENST00000314557.10:c.612C=	ENSP00000324246.6:p.Asn204=
ENST00000314589.9:c.885C=	ENSP00000324443.5:p.Asn295=
ENST00000328528.10:c.930C=	ENSP00000327867.6:p.Asn310=
ENST00000352241.8:c.933C=	ENSP00000295600.7:p.Asn311=
ENST00000394351.7:c.630C=	ENSP00000377880.3:p.Asn210=
ENST00000448226.6:c.951C=	ENSP00000391803.2:p.Asn317=
ENST00000451708.5:c.903C=	ENSP00000398639.1:p.Asn301=
ENST00000472437.5:c.777C=	ENSP00000418845.1:p.Asn259=
ENST00000478490.5:c.*277C=	ENSP00000433487.1:n.*277C=
ENST00000531774.1:c.444C=	ENSP00000435909.1:p.Asn148=
NM_000248.3:c.630C= , LRG_776t1:c.630C=	NP_000239.1:p.Asn210=
NM_001184967.1:c.777C=	NP_001171896.1:p.Asn259=
NM_006722.2:c.930C=	NP_006713.1:p.Asn310=
NM_198158.2:c.612C=	NP_937801.1:p.Asn204=
NM_198159.2:c.933C=	NP_937802.1:p.Asn311=
NM_198177.2:c.885C=	NP_937820.1:p.Asn295=
NM_198178.2:c.444C=	NP_937821.2:p.Asn148=
XM_005264754.1:c.951C=	XP_005264811.1:p.Asn317=
XM_005264755.2:c.903C=	XP_005264812.1:p.Asn301=
XM_006713164.2:c.795C=	XP_006713227.1:p.Asn265=
XM_011533722.1:c.948C=	XP_011532024.1:p.Asn316=
XM_011533723.1:c.900C=	XP_011532025.1:p.Asn300=
XM_011533724.1:c.795C=	XP_011532026.1:p.Asn265=
XM_011533725.1:c.783C=	XP_011532027.1:p.Asn261=
XM_011533726.1:c.765C=	XP_011532028.1:p.Asn255=
NM_001354604.1:c.951C=	NP_001341533.1:p.Asn317=
NM_001354605.1:c.948C=	NP_001341534.1:p.Asn316=
NM_001354606.1:c.930C=	NP_001341535.1:p.Asn310=
NM_001354607.1:c.882C=	NP_001341536.1:p.Asn294=
NM_001354608.1:c.777C=	NP_001341537.1:p.Asn259=
NM_001184967.2:c.777C=	NP_001171896.1:p.Asn259=
NM_001354604.2:c.951C= MANE Select	NP_001341533.1:p.Asn317=
NM_001354605.2:c.948C=	NP_001341534.1:p.Asn316=
NM_001354606.2:c.930C=	NP_001341535.1:p.Asn310=
NM_001354607.2:c.882C=	NP_001341536.1:p.Asn294=
NM_001354608.2:c.777C=	NP_001341537.1:p.Asn259=
NM_198158.3:c.612C=	NP_937801.1:p.Asn204=
NM_198159.3:c.933C=	NP_937802.1:p.Asn311=
NM_198177.3:c.885C=	NP_937820.1:p.Asn295=
NM_198178.3:c.444C=	NP_937821.2:p.Asn148=
NM_000248.4:c.630C= MANE Plus Clinical	NP_000239.1:p.Asn210=
NM_006722.3:c.930C=	NP_006713.1:p.Asn310=