Canonical Allele Identifier: CA353559348
Gene: MITF HGNC NCBI

Linked Data

gnomAD v4: 3-69964866-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69964866G>T , CM000665.2:g.69964866G>T GRCh38
NC_000003.11:g.70014017G>T , CM000665.1:g.70014017G>T GRCh37
NC_000003.10:g.70096707G>T NCBI36
NG_011631.1:g.230385G>T , LRG_776:g.230385G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1133G>T ENSP00000324443.5:p.Arg378Leu
ENST00000687384.1:c.1130G>T ENSP00000510225.1:p.Arg377Leu
ENST00000689390.1:n.1355G>T
ENST00000693031.1:c.1106G>T ENSP00000509845.1:p.Arg369Leu
ENST00000693549.1:c.1114-48G>T ENSP00000509358.1:n.1114-48G>T
ENST00000314589.10:c.1133G>T ENSP00000324443.5:p.Arg378Leu
ENST00000352241.9:c.1199G>T MANE Select ENSP00000295600.8:p.Arg400Leu
ENST00000394351.9:c.878G>T MANE Plus Clinical ENSP00000377880.3:p.Arg293Leu
ENST00000448226.9:c.1178G>T ENSP00000391803.3:p.Arg393Leu
ENST00000642352.1:c.1181G>T ENSP00000494105.1:p.Arg394Leu
ENST00000314557.10:c.860G>T ENSP00000324246.6:p.Arg287Leu
ENST00000314589.9:c.1133G>T ENSP00000324443.5:p.Arg378Leu
ENST00000328528.10:c.1178G>T ENSP00000327867.6:p.Arg393Leu
ENST00000352241.8:c.1181G>T ENSP00000295600.7:p.Arg394Leu
ENST00000394351.7:c.878G>T ENSP00000377880.3:p.Arg293Leu
ENST00000448226.6:c.1199G>T ENSP00000391803.2:p.Arg400Leu
ENST00000472437.5:c.1025G>T ENSP00000418845.1:p.Arg342Leu
ENST00000478490.5:c.*525G>T ENSP00000433487.1:n.*525G>T
ENST00000531774.1:c.692G>T ENSP00000435909.1:p.Arg231Leu
NM_000248.3:c.878G>T , LRG_776t1:c.878G>T NP_000239.1:p.Arg293Leu
NM_001184967.1:c.1025G>T NP_001171896.1:p.Arg342Leu
NM_006722.2:c.1178G>T NP_006713.1:p.Arg393Leu
NM_198158.2:c.860G>T NP_937801.1:p.Arg287Leu
NM_198159.2:c.1181G>T NP_937802.1:p.Arg394Leu
NM_198177.2:c.1133G>T NP_937820.1:p.Arg378Leu
NM_198178.2:c.692G>T NP_937821.2:p.Arg231Leu
XM_005264754.1:c.1199G>T XP_005264811.1:p.Arg400Leu
XM_005264755.2:c.1151G>T XP_005264812.1:p.Arg384Leu
XM_006713164.2:c.1043G>T XP_006713227.1:p.Arg348Leu
XM_011533722.1:c.1196G>T XP_011532024.1:p.Arg399Leu
XM_011533723.1:c.1148G>T XP_011532025.1:p.Arg383Leu
XM_011533724.1:c.1043G>T XP_011532026.1:p.Arg348Leu
XM_011533725.1:c.1031G>T XP_011532027.1:p.Arg344Leu
XM_011533726.1:c.1013G>T XP_011532028.1:p.Arg338Leu
NM_001354604.1:c.1199G>T NP_001341533.1:p.Arg400Leu
NM_001354605.1:c.1196G>T NP_001341534.1:p.Arg399Leu
NM_001354606.1:c.1178G>T NP_001341535.1:p.Arg393Leu
NM_001354607.1:c.1130G>T NP_001341536.1:p.Arg377Leu
NM_001354608.1:c.1025G>T NP_001341537.1:p.Arg342Leu
NM_001184967.2:c.1025G>T NP_001171896.1:p.Arg342Leu
NM_001354604.2:c.1199G>T MANE Select NP_001341533.1:p.Arg400Leu
NM_001354605.2:c.1196G>T NP_001341534.1:p.Arg399Leu
NM_001354606.2:c.1178G>T NP_001341535.1:p.Arg393Leu
NM_001354607.2:c.1130G>T NP_001341536.1:p.Arg377Leu
NM_001354608.2:c.1025G>T NP_001341537.1:p.Arg342Leu
NM_198158.3:c.860G>T NP_937801.1:p.Arg287Leu
NM_198159.3:c.1181G>T NP_937802.1:p.Arg394Leu
NM_198177.3:c.1133G>T NP_937820.1:p.Arg378Leu
NM_198178.3:c.692G>T NP_937821.2:p.Arg231Leu
NM_000248.4:c.878G>T MANE Plus Clinical NP_000239.1:p.Arg293Leu
NM_006722.3:c.1178G>T NP_006713.1:p.Arg393Leu