Canonical Allele Identifier: CA353559346
Community Standard Title: NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter)
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69964865C>T , CM000665.2:g.69964865C>T GRCh38
NC_000003.11:g.70014016C>T , CM000665.1:g.70014016C>T GRCh37
NC_000003.10:g.70096706C>T NCBI36
NG_011631.1:g.230384C>T , LRG_776:g.230384C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001354604.2:c.1198C>T MANE Select NP_001341533.1:p.Arg400Ter
ENST00000352241.9:c.1198C>T MANE Select ENSP00000295600.8:p.Arg400Ter
NM_000248.4:c.877C>T MANE Plus Clinical NP_000239.1:p.Arg293Ter
ENST00000394351.9:c.877C>T MANE Plus Clinical ENSP00000377880.3:p.Arg293Ter
NM_000248.3:c.877C>T , LRG_776t1:c.877C>T NP_000239.1:p.Arg293Ter
NM_001184967.1:c.1024C>T NP_001171896.1:p.Arg342Ter
NM_001184967.2:c.1024C>T NP_001171896.1:p.Arg342Ter
NM_001354604.1:c.1198C>T NP_001341533.1:p.Arg400Ter
NM_001354605.1:c.1195C>T NP_001341534.1:p.Arg399Ter
NM_001354605.2:c.1195C>T NP_001341534.1:p.Arg399Ter
NM_001354606.1:c.1177C>T NP_001341535.1:p.Arg393Ter
NM_001354606.2:c.1177C>T NP_001341535.1:p.Arg393Ter
NM_001354607.1:c.1129C>T NP_001341536.1:p.Arg377Ter
NM_001354607.2:c.1129C>T NP_001341536.1:p.Arg377Ter
NM_001354608.1:c.1024C>T NP_001341537.1:p.Arg342Ter
NM_001354608.2:c.1024C>T NP_001341537.1:p.Arg342Ter
NM_006722.2:c.1177C>T NP_006713.1:p.Arg393Ter
NM_006722.3:c.1177C>T NP_006713.1:p.Arg393Ter
NM_198158.2:c.859C>T NP_937801.1:p.Arg287Ter
NM_198158.3:c.859C>T NP_937801.1:p.Arg287Ter
NM_198159.2:c.1180C>T NP_937802.1:p.Arg394Ter
NM_198159.3:c.1180C>T NP_937802.1:p.Arg394Ter
NM_198177.2:c.1132C>T NP_937820.1:p.Arg378Ter
NM_198177.3:c.1132C>T NP_937820.1:p.Arg378Ter
NM_198178.2:c.691C>T NP_937821.2:p.Arg231Ter
NM_198178.3:c.691C>T NP_937821.2:p.Arg231Ter
ENST00000314557.10:c.859C>T ENSP00000324246.6:p.Arg287Ter
ENST00000314589.10:c.1132C>T ENSP00000324443.5:p.Arg378Ter
ENST00000314589.11:c.1132C>T ENSP00000324443.5:p.Arg378Ter
ENST00000314589.9:c.1132C>T ENSP00000324443.5:p.Arg378Ter
ENST00000328528.10:c.1177C>T ENSP00000327867.6:p.Arg393Ter
ENST00000352241.8:c.1180C>T ENSP00000295600.7:p.Arg394Ter
ENST00000394351.7:c.877C>T ENSP00000377880.3:p.Arg293Ter
ENST00000448226.6:c.1198C>T ENSP00000391803.2:p.Arg400Ter
ENST00000448226.9:c.1177C>T ENSP00000391803.3:p.Arg393Ter
ENST00000472437.5:c.1024C>T ENSP00000418845.1:p.Arg342Ter
ENST00000478490.5:c.*524C>T ENSP00000433487.1:n.*524C>T
ENST00000531774.1:c.691C>T ENSP00000435909.1:p.Arg231Ter
ENST00000642352.1:c.1180C>T ENSP00000494105.1:p.Arg394Ter
ENST00000687384.1:c.1129C>T ENSP00000510225.1:p.Arg377Ter
ENST00000689390.1:n.1354C>T
ENST00000693031.1:c.1105C>T ENSP00000509845.1:p.Arg369Ter
ENST00000693549.1:c.1114-49C>T ENSP00000509358.1:n.1114-49C>T
XM_005264754.1:c.1198C>T XP_005264811.1:p.Arg400Ter
XM_005264755.2:c.1150C>T XP_005264812.1:p.Arg384Ter
XM_006713164.2:c.1042C>T XP_006713227.1:p.Arg348Ter
XM_011533722.1:c.1195C>T XP_011532024.1:p.Arg399Ter
XM_011533723.1:c.1147C>T XP_011532025.1:p.Arg383Ter
XM_011533724.1:c.1042C>T XP_011532026.1:p.Arg348Ter
XM_011533725.1:c.1030C>T XP_011532027.1:p.Arg344Ter
XM_011533726.1:c.1012C>T XP_011532028.1:p.Arg338Ter