Canonical Allele Identifier: CA353559320

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70014005A>C (hg19) ; chr3:g.69964854A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69964854A>C , CM000665.2:g.69964854A>C	GRCh38
NC_000003.11:g.70014005A>C , CM000665.1:g.70014005A>C	GRCh37
NC_000003.10:g.70096695A>C	NCBI36
NG_011631.1:g.230373A>C , LRG_776:g.230373A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000314589.11:c.1121A>C	ENSP00000324443.5:p.Glu374Ala
ENST00000687384.1:c.1118A>C	ENSP00000510225.1:p.Glu373Ala
ENST00000689390.1:n.1343A>C
ENST00000693031.1:c.1094A>C	ENSP00000509845.1:p.Glu365Ala
ENST00000693549.1:c.1114-60A>C	ENSP00000509358.1:n.1114-60A>C
ENST00000314589.10:c.1121A>C	ENSP00000324443.5:p.Glu374Ala
ENST00000352241.9:c.1187A>C MANE Select	ENSP00000295600.8:p.Glu396Ala
ENST00000394351.9:c.866A>C MANE Plus Clinical	ENSP00000377880.3:p.Glu289Ala
ENST00000448226.9:c.1166A>C	ENSP00000391803.3:p.Glu389Ala
ENST00000642352.1:c.1169A>C	ENSP00000494105.1:p.Glu390Ala
ENST00000314557.10:c.848A>C	ENSP00000324246.6:p.Glu283Ala
ENST00000314589.9:c.1121A>C	ENSP00000324443.5:p.Glu374Ala
ENST00000328528.10:c.1166A>C	ENSP00000327867.6:p.Glu389Ala
ENST00000352241.8:c.1169A>C	ENSP00000295600.7:p.Glu390Ala
ENST00000394351.7:c.866A>C	ENSP00000377880.3:p.Glu289Ala
ENST00000448226.6:c.1187A>C	ENSP00000391803.2:p.Glu396Ala
ENST00000472437.5:c.1013A>C	ENSP00000418845.1:p.Glu338Ala
ENST00000478490.5:c.*513A>C	ENSP00000433487.1:n.*513A>C
ENST00000531774.1:c.680A>C	ENSP00000435909.1:p.Glu227Ala
NM_000248.3:c.866A>C , LRG_776t1:c.866A>C	NP_000239.1:p.Glu289Ala
NM_001184967.1:c.1013A>C	NP_001171896.1:p.Glu338Ala
NM_006722.2:c.1166A>C	NP_006713.1:p.Glu389Ala
NM_198158.2:c.848A>C	NP_937801.1:p.Glu283Ala
NM_198159.2:c.1169A>C	NP_937802.1:p.Glu390Ala
NM_198177.2:c.1121A>C	NP_937820.1:p.Glu374Ala
NM_198178.2:c.680A>C	NP_937821.2:p.Glu227Ala
XM_005264754.1:c.1187A>C	XP_005264811.1:p.Glu396Ala
XM_005264755.2:c.1139A>C	XP_005264812.1:p.Glu380Ala
XM_006713164.2:c.1031A>C	XP_006713227.1:p.Glu344Ala
XM_011533722.1:c.1184A>C	XP_011532024.1:p.Glu395Ala
XM_011533723.1:c.1136A>C	XP_011532025.1:p.Glu379Ala
XM_011533724.1:c.1031A>C	XP_011532026.1:p.Glu344Ala
XM_011533725.1:c.1019A>C	XP_011532027.1:p.Glu340Ala
XM_011533726.1:c.1001A>C	XP_011532028.1:p.Glu334Ala
NM_001354604.1:c.1187A>C	NP_001341533.1:p.Glu396Ala
NM_001354605.1:c.1184A>C	NP_001341534.1:p.Glu395Ala
NM_001354606.1:c.1166A>C	NP_001341535.1:p.Glu389Ala
NM_001354607.1:c.1118A>C	NP_001341536.1:p.Glu373Ala
NM_001354608.1:c.1013A>C	NP_001341537.1:p.Glu338Ala
NM_001184967.2:c.1013A>C	NP_001171896.1:p.Glu338Ala
NM_001354604.2:c.1187A>C MANE Select	NP_001341533.1:p.Glu396Ala
NM_001354605.2:c.1184A>C	NP_001341534.1:p.Glu395Ala
NM_001354606.2:c.1166A>C	NP_001341535.1:p.Glu389Ala
NM_001354607.2:c.1118A>C	NP_001341536.1:p.Glu373Ala
NM_001354608.2:c.1013A>C	NP_001341537.1:p.Glu338Ala
NM_198158.3:c.848A>C	NP_937801.1:p.Glu283Ala
NM_198159.3:c.1169A>C	NP_937802.1:p.Glu390Ala
NM_198177.3:c.1121A>C	NP_937820.1:p.Glu374Ala
NM_198178.3:c.680A>C	NP_937821.2:p.Glu227Ala
NM_000248.4:c.866A>C MANE Plus Clinical	NP_000239.1:p.Glu289Ala
NM_006722.3:c.1166A>C	NP_006713.1:p.Glu389Ala