Canonical Allele Identifier: CA77002597
Community Standard Title: NM_001354604.2(MITF):c.990C>T (p.Arg330=)
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69956489C>T , CM000665.2:g.69956489C>T GRCh38
NC_000003.11:g.70005640C>T , CM000665.1:g.70005640C>T GRCh37
NC_000003.10:g.70088330C>T NCBI36
NG_011631.1:g.222008C>T , LRG_776:g.222008C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001354604.2:c.990C>T MANE Select NP_001341533.1:p.Arg330=
ENST00000352241.9:c.990C>T MANE Select ENSP00000295600.8:p.Arg330=
NM_000248.4:c.669C>T MANE Plus Clinical NP_000239.1:p.Arg223=
ENST00000394351.9:c.669C>T MANE Plus Clinical ENSP00000377880.3:p.Arg223=
NM_000248.3:c.669C>T , LRG_776t1:c.669C>T NP_000239.1:p.Arg223=
NM_001184967.1:c.816C>T NP_001171896.1:p.Arg272=
NM_001184967.2:c.816C>T NP_001171896.1:p.Arg272=
NM_001354604.1:c.990C>T NP_001341533.1:p.Arg330=
NM_001354605.1:c.987C>T NP_001341534.1:p.Arg329=
NM_001354605.2:c.987C>T NP_001341534.1:p.Arg329=
NM_001354606.1:c.969C>T NP_001341535.1:p.Arg323=
NM_001354606.2:c.969C>T NP_001341535.1:p.Arg323=
NM_001354607.1:c.921C>T NP_001341536.1:p.Arg307=
NM_001354607.2:c.921C>T NP_001341536.1:p.Arg307=
NM_001354608.1:c.816C>T NP_001341537.1:p.Arg272=
NM_001354608.2:c.816C>T NP_001341537.1:p.Arg272=
NM_006722.2:c.969C>T NP_006713.1:p.Arg323=
NM_006722.3:c.969C>T NP_006713.1:p.Arg323=
NM_198158.2:c.651C>T NP_937801.1:p.Arg217=
NM_198158.3:c.651C>T NP_937801.1:p.Arg217=
NM_198159.2:c.972C>T NP_937802.1:p.Arg324=
NM_198159.3:c.972C>T NP_937802.1:p.Arg324=
NM_198177.2:c.924C>T NP_937820.1:p.Arg308=
NM_198177.3:c.924C>T NP_937820.1:p.Arg308=
NM_198178.2:c.483C>T NP_937821.2:p.Arg161=
NM_198178.3:c.483C>T NP_937821.2:p.Arg161=
ENST00000314557.10:c.651C>T ENSP00000324246.6:p.Arg217=
ENST00000314589.10:c.924C>T ENSP00000324443.5:p.Arg308=
ENST00000314589.11:c.924C>T ENSP00000324443.5:p.Arg308=
ENST00000314589.9:c.924C>T ENSP00000324443.5:p.Arg308=
ENST00000328528.10:c.969C>T ENSP00000327867.6:p.Arg323=
ENST00000352241.8:c.972C>T ENSP00000295600.7:p.Arg324=
ENST00000394351.7:c.669C>T ENSP00000377880.3:p.Arg223=
ENST00000448226.6:c.990C>T ENSP00000391803.2:p.Arg330=
ENST00000448226.9:c.969C>T ENSP00000391803.3:p.Arg323=
ENST00000451708.5:c.942C>T ENSP00000398639.1:p.Arg314=
ENST00000472437.5:c.816C>T ENSP00000418845.1:p.Arg272=
ENST00000478490.5:c.*316C>T ENSP00000433487.1:n.*316C>T
ENST00000531774.1:c.483C>T ENSP00000435909.1:p.Arg161=
ENST00000642352.1:c.972C>T ENSP00000494105.1:p.Arg324=
ENST00000687384.1:c.921C>T ENSP00000510225.1:p.Arg307=
ENST00000689390.1:n.1146C>T
ENST00000693031.1:c.897C>T ENSP00000509845.1:p.Arg299=
ENST00000693549.1:c.924C>T ENSP00000509358.1:p.Arg308=
XM_005264754.1:c.990C>T XP_005264811.1:p.Arg330=
XM_005264755.2:c.942C>T XP_005264812.1:p.Arg314=
XM_006713164.2:c.834C>T XP_006713227.1:p.Arg278=
XM_011533722.1:c.987C>T XP_011532024.1:p.Arg329=
XM_011533723.1:c.939C>T XP_011532025.1:p.Arg313=
XM_011533724.1:c.834C>T XP_011532026.1:p.Arg278=
XM_011533725.1:c.822C>T XP_011532027.1:p.Arg274=
XM_011533726.1:c.804C>T XP_011532028.1:p.Arg268=