Canonical Allele Identifier: CA353561615

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70001013C>A (hg19) ; chr3:g.69951862C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69951862C>A , CM000665.2:g.69951862C>A	GRCh38
NC_000003.11:g.70001013C>A , CM000665.1:g.70001013C>A	GRCh37
NC_000003.10:g.70083703C>A	NCBI36
NG_011631.1:g.217381C>A , LRG_776:g.217381C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.865C>A	ENSP00000324443.5:p.Gln289Lys
ENST00000687384.1:c.862C>A	ENSP00000510225.1:p.Gln288Lys
ENST00000689390.1:n.1087C>A
ENST00000693031.1:c.838C>A	ENSP00000509845.1:p.Gln280Lys
ENST00000693549.1:c.865C>A	ENSP00000509358.1:p.Gln289Lys
ENST00000314589.10:c.865C>A	ENSP00000324443.5:p.Gln289Lys
ENST00000352241.9:c.931C>A MANE Select	ENSP00000295600.8:p.Gln311Lys
ENST00000394351.9:c.610C>A MANE Plus Clinical	ENSP00000377880.3:p.Gln204Lys
ENST00000448226.9:c.910C>A	ENSP00000391803.3:p.Gln304Lys
ENST00000642352.1:c.913C>A	ENSP00000494105.1:p.Gln305Lys
ENST00000314557.10:c.592C>A	ENSP00000324246.6:p.Gln198Lys
ENST00000314589.9:c.865C>A	ENSP00000324443.5:p.Gln289Lys
ENST00000328528.10:c.910C>A	ENSP00000327867.6:p.Gln304Lys
ENST00000352241.8:c.913C>A	ENSP00000295600.7:p.Gln305Lys
ENST00000394351.7:c.610C>A	ENSP00000377880.3:p.Gln204Lys
ENST00000448226.6:c.931C>A	ENSP00000391803.2:p.Gln311Lys
ENST00000451708.5:c.883C>A	ENSP00000398639.1:p.Gln295Lys
ENST00000472437.5:c.757C>A	ENSP00000418845.1:p.Gln253Lys
ENST00000478490.5:c.*257C>A	ENSP00000433487.1:n.*257C>A
ENST00000531774.1:c.424C>A	ENSP00000435909.1:p.Gln142Lys
NM_000248.3:c.610C>A , LRG_776t1:c.610C>A	NP_000239.1:p.Gln204Lys
NM_001184967.1:c.757C>A	NP_001171896.1:p.Gln253Lys
NM_006722.2:c.910C>A	NP_006713.1:p.Gln304Lys
NM_198158.2:c.592C>A	NP_937801.1:p.Gln198Lys
NM_198159.2:c.913C>A	NP_937802.1:p.Gln305Lys
NM_198177.2:c.865C>A	NP_937820.1:p.Gln289Lys
NM_198178.2:c.424C>A	NP_937821.2:p.Gln142Lys
XM_005264754.1:c.931C>A	XP_005264811.1:p.Gln311Lys
XM_005264755.2:c.883C>A	XP_005264812.1:p.Gln295Lys
XM_006713164.2:c.775C>A	XP_006713227.1:p.Gln259Lys
XM_011533722.1:c.928C>A	XP_011532024.1:p.Gln310Lys
XM_011533723.1:c.880C>A	XP_011532025.1:p.Gln294Lys
XM_011533724.1:c.775C>A	XP_011532026.1:p.Gln259Lys
XM_011533725.1:c.763C>A	XP_011532027.1:p.Gln255Lys
XM_011533726.1:c.745C>A	XP_011532028.1:p.Gln249Lys
NM_001354604.1:c.931C>A	NP_001341533.1:p.Gln311Lys
NM_001354605.1:c.928C>A	NP_001341534.1:p.Gln310Lys
NM_001354606.1:c.910C>A	NP_001341535.1:p.Gln304Lys
NM_001354607.1:c.862C>A	NP_001341536.1:p.Gln288Lys
NM_001354608.1:c.757C>A	NP_001341537.1:p.Gln253Lys
NM_001184967.2:c.757C>A	NP_001171896.1:p.Gln253Lys
NM_001354604.2:c.931C>A MANE Select	NP_001341533.1:p.Gln311Lys
NM_001354605.2:c.928C>A	NP_001341534.1:p.Gln310Lys
NM_001354606.2:c.910C>A	NP_001341535.1:p.Gln304Lys
NM_001354607.2:c.862C>A	NP_001341536.1:p.Gln288Lys
NM_001354608.2:c.757C>A	NP_001341537.1:p.Gln253Lys
NM_198158.3:c.592C>A	NP_937801.1:p.Gln198Lys
NM_198159.3:c.913C>A	NP_937802.1:p.Gln305Lys
NM_198177.3:c.865C>A	NP_937820.1:p.Gln289Lys
NM_198178.3:c.424C>A	NP_937821.2:p.Gln142Lys
NM_000248.4:c.610C>A MANE Plus Clinical	NP_000239.1:p.Gln204Lys
NM_006722.3:c.910C>A	NP_006713.1:p.Gln304Lys