Canonical Allele Identifier: CA353559748
Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 1305242
ClinVar RCV Id: RCV001768449
dbSNP Id: rs1297217487
gnomAD v2: 3-70014209-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69965058G>T , CM000665.2:g.69965058G>T GRCh38
NC_000003.11:g.70014209G>T , CM000665.1:g.70014209G>T GRCh37
NC_000003.10:g.70096899G>T NCBI36
NG_011631.1:g.230577G>T , LRG_776:g.230577G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1325G>T ENSP00000324443.5:p.Gly442Val
ENST00000687384.1:c.1322G>T ENSP00000510225.1:p.Gly441Val
ENST00000689390.1:n.1547G>T
ENST00000693031.1:c.1298G>T ENSP00000509845.1:p.Gly433Val
ENST00000693549.1:c.*136G>T ENSP00000509358.1:n.*136G>T
ENST00000314589.10:c.1325G>T ENSP00000324443.5:p.Gly442Val
ENST00000352241.9:c.1391G>T MANE Select ENSP00000295600.8:p.Gly464Val
ENST00000394351.9:c.1070G>T MANE Plus Clinical ENSP00000377880.3:p.Gly357Val
ENST00000448226.9:c.1370G>T ENSP00000391803.3:p.Gly457Val
ENST00000642352.1:c.1373G>T ENSP00000494105.1:p.Gly458Val
ENST00000314557.10:c.1052G>T ENSP00000324246.6:p.Gly351Val
ENST00000314589.9:c.1325G>T ENSP00000324443.5:p.Gly442Val
ENST00000328528.10:c.1370G>T ENSP00000327867.6:p.Gly457Val
ENST00000352241.8:c.1373G>T ENSP00000295600.7:p.Gly458Val
ENST00000394351.7:c.1070G>T ENSP00000377880.3:p.Gly357Val
ENST00000448226.6:c.1391G>T ENSP00000391803.2:p.Gly464Val
ENST00000472437.5:c.1217G>T ENSP00000418845.1:p.Gly406Val
ENST00000478490.5:c.*717G>T ENSP00000433487.1:n.*717G>T
ENST00000531774.1:c.884G>T ENSP00000435909.1:p.Gly295Val
NM_000248.3:c.1070G>T , LRG_776t1:c.1070G>T NP_000239.1:p.Gly357Val
NM_001184967.1:c.1217G>T NP_001171896.1:p.Gly406Val
NM_006722.2:c.1370G>T NP_006713.1:p.Gly457Val
NM_198158.2:c.1052G>T NP_937801.1:p.Gly351Val
NM_198159.2:c.1373G>T NP_937802.1:p.Gly458Val
NM_198177.2:c.1325G>T NP_937820.1:p.Gly442Val
NM_198178.2:c.884G>T NP_937821.2:p.Gly295Val
XM_005264754.1:c.1391G>T XP_005264811.1:p.Gly464Val
XM_005264755.2:c.1343G>T XP_005264812.1:p.Gly448Val
XM_006713164.2:c.1235G>T XP_006713227.1:p.Gly412Val
XM_011533722.1:c.1388G>T XP_011532024.1:p.Gly463Val
XM_011533723.1:c.1340G>T XP_011532025.1:p.Gly447Val
XM_011533724.1:c.1235G>T XP_011532026.1:p.Gly412Val
XM_011533725.1:c.1223G>T XP_011532027.1:p.Gly408Val
XM_011533726.1:c.1205G>T XP_011532028.1:p.Gly402Val
NM_001354604.1:c.1391G>T NP_001341533.1:p.Gly464Val
NM_001354605.1:c.1388G>T NP_001341534.1:p.Gly463Val
NM_001354606.1:c.1370G>T NP_001341535.1:p.Gly457Val
NM_001354607.1:c.1322G>T NP_001341536.1:p.Gly441Val
NM_001354608.1:c.1217G>T NP_001341537.1:p.Gly406Val
NM_001184967.2:c.1217G>T NP_001171896.1:p.Gly406Val
NM_001354604.2:c.1391G>T MANE Select NP_001341533.1:p.Gly464Val
NM_001354605.2:c.1388G>T NP_001341534.1:p.Gly463Val
NM_001354606.2:c.1370G>T NP_001341535.1:p.Gly457Val
NM_001354607.2:c.1322G>T NP_001341536.1:p.Gly441Val
NM_001354608.2:c.1217G>T NP_001341537.1:p.Gly406Val
NM_198158.3:c.1052G>T NP_937801.1:p.Gly351Val
NM_198159.3:c.1373G>T NP_937802.1:p.Gly458Val
NM_198177.3:c.1325G>T NP_937820.1:p.Gly442Val
NM_198178.3:c.884G>T NP_937821.2:p.Gly295Val
NM_000248.4:c.1070G>T MANE Plus Clinical NP_000239.1:p.Gly357Val
NM_006722.3:c.1370G>T NP_006713.1:p.Gly457Val