Canonical Allele Identifier: CA353562021

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69959340G>C , CM000665.2:g.69959340G>C	GRCh38
NC_000003.11:g.70008491G>C , CM000665.1:g.70008491G>C	GRCh37
NC_000003.10:g.70091181G>C	NCBI36
NG_011631.1:g.224859G>C , LRG_776:g.224859G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001354604.2:c.1099G>C MANE Select	NP_001341533.1:p.Glu367Gln
ENST00000352241.9:c.1099G>C MANE Select	ENSP00000295600.8:p.Glu367Gln
NM_000248.4:c.778G>C MANE Plus Clinical	NP_000239.1:p.Glu260Gln
ENST00000394351.9:c.778G>C MANE Plus Clinical	ENSP00000377880.3:p.Glu260Gln
NM_000248.3:c.778G>C , LRG_776t1:c.778G>C	NP_000239.1:p.Glu260Gln
NM_001184967.1:c.925G>C	NP_001171896.1:p.Glu309Gln
NM_001184967.2:c.925G>C	NP_001171896.1:p.Glu309Gln
NM_001354604.1:c.1099G>C	NP_001341533.1:p.Glu367Gln
NM_001354605.1:c.1096G>C	NP_001341534.1:p.Glu366Gln
NM_001354605.2:c.1096G>C	NP_001341534.1:p.Glu366Gln
NM_001354606.1:c.1078G>C	NP_001341535.1:p.Glu360Gln
NM_001354606.2:c.1078G>C	NP_001341535.1:p.Glu360Gln
NM_001354607.1:c.1030G>C	NP_001341536.1:p.Glu344Gln
NM_001354607.2:c.1030G>C	NP_001341536.1:p.Glu344Gln
NM_001354608.1:c.925G>C	NP_001341537.1:p.Glu309Gln
NM_001354608.2:c.925G>C	NP_001341537.1:p.Glu309Gln
NM_006722.2:c.1078G>C	NP_006713.1:p.Glu360Gln
NM_006722.3:c.1078G>C	NP_006713.1:p.Glu360Gln
NM_198158.2:c.760G>C	NP_937801.1:p.Glu254Gln
NM_198158.3:c.760G>C	NP_937801.1:p.Glu254Gln
NM_198159.2:c.1081G>C	NP_937802.1:p.Glu361Gln
NM_198159.3:c.1081G>C	NP_937802.1:p.Glu361Gln
NM_198177.2:c.1033G>C	NP_937820.1:p.Glu345Gln
NM_198177.3:c.1033G>C	NP_937820.1:p.Glu345Gln
NM_198178.2:c.592G>C	NP_937821.2:p.Glu198Gln
NM_198178.3:c.592G>C	NP_937821.2:p.Glu198Gln
ENST00000314557.10:c.760G>C	ENSP00000324246.6:p.Glu254Gln
ENST00000314589.10:c.1033G>C	ENSP00000324443.5:p.Glu345Gln
ENST00000314589.11:c.1033G>C	ENSP00000324443.5:p.Glu345Gln
ENST00000314589.9:c.1033G>C	ENSP00000324443.5:p.Glu345Gln
ENST00000328528.10:c.1078G>C	ENSP00000327867.6:p.Glu360Gln
ENST00000352241.8:c.1081G>C	ENSP00000295600.7:p.Glu361Gln
ENST00000394351.7:c.778G>C	ENSP00000377880.3:p.Glu260Gln
ENST00000448226.6:c.1099G>C	ENSP00000391803.2:p.Glu367Gln
ENST00000448226.9:c.1078G>C	ENSP00000391803.3:p.Glu360Gln
ENST00000451708.5:c.1051G>C	ENSP00000398639.1:p.Glu351Gln
ENST00000472437.5:c.925G>C	ENSP00000418845.1:p.Glu309Gln
ENST00000478490.5:c.*425G>C	ENSP00000433487.1:n.*425G>C
ENST00000531774.1:c.592G>C	ENSP00000435909.1:p.Glu198Gln
ENST00000642352.1:c.1081G>C	ENSP00000494105.1:p.Glu361Gln
ENST00000687384.1:c.1030G>C	ENSP00000510225.1:p.Glu344Gln
ENST00000689390.1:n.1255G>C
ENST00000693031.1:c.1006G>C	ENSP00000509845.1:p.Glu336Gln
ENST00000693549.1:c.1033G>C	ENSP00000509358.1:p.Glu345Gln
XM_005264754.1:c.1099G>C	XP_005264811.1:p.Glu367Gln
XM_005264755.2:c.1051G>C	XP_005264812.1:p.Glu351Gln
XM_006713164.2:c.943G>C	XP_006713227.1:p.Glu315Gln
XM_011533722.1:c.1096G>C	XP_011532024.1:p.Glu366Gln
XM_011533723.1:c.1048G>C	XP_011532025.1:p.Glu350Gln
XM_011533724.1:c.943G>C	XP_011532026.1:p.Glu315Gln
XM_011533725.1:c.931G>C	XP_011532027.1:p.Glu311Gln
XM_011533726.1:c.913G>C	XP_011532028.1:p.Glu305Gln