Canonical Allele Identifier: CA353561704

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70005614A>T (hg19) ; chr3:g.69956463A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69956463A>T , CM000665.2:g.69956463A>T	GRCh38
NC_000003.11:g.70005614A>T , CM000665.1:g.70005614A>T	GRCh37
NC_000003.10:g.70088304A>T	NCBI36
NG_011631.1:g.221982A>T , LRG_776:g.221982A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000314589.11:c.898A>T	ENSP00000324443.5:p.Arg300Ter
ENST00000687384.1:c.895A>T	ENSP00000510225.1:p.Arg299Ter
ENST00000689390.1:n.1120A>T
ENST00000693031.1:c.871A>T	ENSP00000509845.1:p.Arg291Ter
ENST00000693549.1:c.898A>T	ENSP00000509358.1:p.Arg300Ter
ENST00000314589.10:c.898A>T	ENSP00000324443.5:p.Arg300Ter
ENST00000352241.9:c.964A>T MANE Select	ENSP00000295600.8:p.Arg322Ter
ENST00000394351.9:c.643A>T MANE Plus Clinical	ENSP00000377880.3:p.Arg215Ter
ENST00000448226.9:c.943A>T	ENSP00000391803.3:p.Arg315Ter
ENST00000642352.1:c.946A>T	ENSP00000494105.1:p.Arg316Ter
ENST00000314557.10:c.625A>T	ENSP00000324246.6:p.Arg209Ter
ENST00000314589.9:c.898A>T	ENSP00000324443.5:p.Arg300Ter
ENST00000328528.10:c.943A>T	ENSP00000327867.6:p.Arg315Ter
ENST00000352241.8:c.946A>T	ENSP00000295600.7:p.Arg316Ter
ENST00000394351.7:c.643A>T	ENSP00000377880.3:p.Arg215Ter
ENST00000448226.6:c.964A>T	ENSP00000391803.2:p.Arg322Ter
ENST00000451708.5:c.916A>T	ENSP00000398639.1:p.Arg306Ter
ENST00000472437.5:c.790A>T	ENSP00000418845.1:p.Arg264Ter
ENST00000478490.5:c.*290A>T	ENSP00000433487.1:n.*290A>T
ENST00000531774.1:c.457A>T	ENSP00000435909.1:p.Arg153Ter
NM_000248.3:c.643A>T , LRG_776t1:c.643A>T	NP_000239.1:p.Arg215Ter
NM_001184967.1:c.790A>T	NP_001171896.1:p.Arg264Ter
NM_006722.2:c.943A>T	NP_006713.1:p.Arg315Ter
NM_198158.2:c.625A>T	NP_937801.1:p.Arg209Ter
NM_198159.2:c.946A>T	NP_937802.1:p.Arg316Ter
NM_198177.2:c.898A>T	NP_937820.1:p.Arg300Ter
NM_198178.2:c.457A>T	NP_937821.2:p.Arg153Ter
XM_005264754.1:c.964A>T	XP_005264811.1:p.Arg322Ter
XM_005264755.2:c.916A>T	XP_005264812.1:p.Arg306Ter
XM_006713164.2:c.808A>T	XP_006713227.1:p.Arg270Ter
XM_011533722.1:c.961A>T	XP_011532024.1:p.Arg321Ter
XM_011533723.1:c.913A>T	XP_011532025.1:p.Arg305Ter
XM_011533724.1:c.808A>T	XP_011532026.1:p.Arg270Ter
XM_011533725.1:c.796A>T	XP_011532027.1:p.Arg266Ter
XM_011533726.1:c.778A>T	XP_011532028.1:p.Arg260Ter
NM_001354604.1:c.964A>T	NP_001341533.1:p.Arg322Ter
NM_001354605.1:c.961A>T	NP_001341534.1:p.Arg321Ter
NM_001354606.1:c.943A>T	NP_001341535.1:p.Arg315Ter
NM_001354607.1:c.895A>T	NP_001341536.1:p.Arg299Ter
NM_001354608.1:c.790A>T	NP_001341537.1:p.Arg264Ter
NM_001184967.2:c.790A>T	NP_001171896.1:p.Arg264Ter
NM_001354604.2:c.964A>T MANE Select	NP_001341533.1:p.Arg322Ter
NM_001354605.2:c.961A>T	NP_001341534.1:p.Arg321Ter
NM_001354606.2:c.943A>T	NP_001341535.1:p.Arg315Ter
NM_001354607.2:c.895A>T	NP_001341536.1:p.Arg299Ter
NM_001354608.2:c.790A>T	NP_001341537.1:p.Arg264Ter
NM_198158.3:c.625A>T	NP_937801.1:p.Arg209Ter
NM_198159.3:c.946A>T	NP_937802.1:p.Arg316Ter
NM_198177.3:c.898A>T	NP_937820.1:p.Arg300Ter
NM_198178.3:c.457A>T	NP_937821.2:p.Arg153Ter
NM_000248.4:c.643A>T MANE Plus Clinical	NP_000239.1:p.Arg215Ter
NM_006722.3:c.943A>T	NP_006713.1:p.Arg315Ter