Canonical Allele Identifier: CA353561545

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70000981A>T (hg19) ; chr3:g.69951830A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69951830A>T , CM000665.2:g.69951830A>T	GRCh38
NC_000003.11:g.70000981A>T , CM000665.1:g.70000981A>T	GRCh37
NC_000003.10:g.70083671A>T	NCBI36
NG_011631.1:g.217349A>T , LRG_776:g.217349A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.833A>T	ENSP00000324443.5:p.Glu278Val
ENST00000687384.1:c.830A>T	ENSP00000510225.1:p.Glu277Val
ENST00000689390.1:n.1055A>T
ENST00000693031.1:c.806A>T	ENSP00000509845.1:p.Glu269Val
ENST00000693549.1:c.833A>T	ENSP00000509358.1:p.Glu278Val
ENST00000314589.10:c.833A>T	ENSP00000324443.5:p.Glu278Val
ENST00000352241.9:c.899A>T MANE Select	ENSP00000295600.8:p.Glu300Val
ENST00000394351.9:c.578A>T MANE Plus Clinical	ENSP00000377880.3:p.Glu193Val
ENST00000448226.9:c.878A>T	ENSP00000391803.3:p.Glu293Val
ENST00000642352.1:c.881A>T	ENSP00000494105.1:p.Glu294Val
ENST00000314557.10:c.560A>T	ENSP00000324246.6:p.Glu187Val
ENST00000314589.9:c.833A>T	ENSP00000324443.5:p.Glu278Val
ENST00000328528.10:c.878A>T	ENSP00000327867.6:p.Glu293Val
ENST00000352241.8:c.881A>T	ENSP00000295600.7:p.Glu294Val
ENST00000394351.7:c.578A>T	ENSP00000377880.3:p.Glu193Val
ENST00000448226.6:c.899A>T	ENSP00000391803.2:p.Glu300Val
ENST00000451708.5:c.851A>T	ENSP00000398639.1:p.Glu284Val
ENST00000472437.5:c.725A>T	ENSP00000418845.1:p.Glu242Val
ENST00000478490.5:c.*225A>T	ENSP00000433487.1:n.*225A>T
ENST00000531774.1:c.392A>T	ENSP00000435909.1:p.Glu131Val
NM_000248.3:c.578A>T , LRG_776t1:c.578A>T	NP_000239.1:p.Glu193Val
NM_001184967.1:c.725A>T	NP_001171896.1:p.Glu242Val
NM_006722.2:c.878A>T	NP_006713.1:p.Glu293Val
NM_198158.2:c.560A>T	NP_937801.1:p.Glu187Val
NM_198159.2:c.881A>T	NP_937802.1:p.Glu294Val
NM_198177.2:c.833A>T	NP_937820.1:p.Glu278Val
NM_198178.2:c.392A>T	NP_937821.2:p.Glu131Val
XM_005264754.1:c.899A>T	XP_005264811.1:p.Glu300Val
XM_005264755.2:c.851A>T	XP_005264812.1:p.Glu284Val
XM_006713164.2:c.743A>T	XP_006713227.1:p.Glu248Val
XM_011533722.1:c.896A>T	XP_011532024.1:p.Glu299Val
XM_011533723.1:c.848A>T	XP_011532025.1:p.Glu283Val
XM_011533724.1:c.743A>T	XP_011532026.1:p.Glu248Val
XM_011533725.1:c.731A>T	XP_011532027.1:p.Glu244Val
XM_011533726.1:c.713A>T	XP_011532028.1:p.Glu238Val
NM_001354604.1:c.899A>T	NP_001341533.1:p.Glu300Val
NM_001354605.1:c.896A>T	NP_001341534.1:p.Glu299Val
NM_001354606.1:c.878A>T	NP_001341535.1:p.Glu293Val
NM_001354607.1:c.830A>T	NP_001341536.1:p.Glu277Val
NM_001354608.1:c.725A>T	NP_001341537.1:p.Glu242Val
NM_001184967.2:c.725A>T	NP_001171896.1:p.Glu242Val
NM_001354604.2:c.899A>T MANE Select	NP_001341533.1:p.Glu300Val
NM_001354605.2:c.896A>T	NP_001341534.1:p.Glu299Val
NM_001354606.2:c.878A>T	NP_001341535.1:p.Glu293Val
NM_001354607.2:c.830A>T	NP_001341536.1:p.Glu277Val
NM_001354608.2:c.725A>T	NP_001341537.1:p.Glu242Val
NM_198158.3:c.560A>T	NP_937801.1:p.Glu187Val
NM_198159.3:c.881A>T	NP_937802.1:p.Glu294Val
NM_198177.3:c.833A>T	NP_937820.1:p.Glu278Val
NM_198178.3:c.392A>T	NP_937821.2:p.Glu131Val
NM_000248.4:c.578A>T MANE Plus Clinical	NP_000239.1:p.Glu193Val
NM_006722.3:c.878A>T	NP_006713.1:p.Glu293Val