Canonical Allele Identifier: CA353559728
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69965048C>G , CM000665.2:g.69965048C>G GRCh38
NC_000003.11:g.70014199C>G , CM000665.1:g.70014199C>G GRCh37
NC_000003.10:g.70096889C>G NCBI36
NG_011631.1:g.230567C>G , LRG_776:g.230567C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1315C>G ENSP00000324443.5:p.Leu439Val
ENST00000687384.1:c.1312C>G ENSP00000510225.1:p.Leu438Val
ENST00000689390.1:n.1537C>G
ENST00000693031.1:c.1288C>G ENSP00000509845.1:p.Leu430Val
ENST00000693549.1:c.*126C>G ENSP00000509358.1:n.*126C>G
ENST00000314589.10:c.1315C>G ENSP00000324443.5:p.Leu439Val
ENST00000352241.9:c.1381C>G MANE Select ENSP00000295600.8:p.Leu461Val
ENST00000394351.9:c.1060C>G MANE Plus Clinical ENSP00000377880.3:p.Leu354Val
ENST00000448226.9:c.1360C>G ENSP00000391803.3:p.Leu454Val
ENST00000642352.1:c.1363C>G ENSP00000494105.1:p.Leu455Val
ENST00000314557.10:c.1042C>G ENSP00000324246.6:p.Leu348Val
ENST00000314589.9:c.1315C>G ENSP00000324443.5:p.Leu439Val
ENST00000328528.10:c.1360C>G ENSP00000327867.6:p.Leu454Val
ENST00000352241.8:c.1363C>G ENSP00000295600.7:p.Leu455Val
ENST00000394351.7:c.1060C>G ENSP00000377880.3:p.Leu354Val
ENST00000448226.6:c.1381C>G ENSP00000391803.2:p.Leu461Val
ENST00000472437.5:c.1207C>G ENSP00000418845.1:p.Leu403Val
ENST00000478490.5:c.*707C>G ENSP00000433487.1:n.*707C>G
ENST00000531774.1:c.874C>G ENSP00000435909.1:p.Leu292Val
NM_000248.3:c.1060C>G , LRG_776t1:c.1060C>G NP_000239.1:p.Leu354Val
NM_001184967.1:c.1207C>G NP_001171896.1:p.Leu403Val
NM_006722.2:c.1360C>G NP_006713.1:p.Leu454Val
NM_198158.2:c.1042C>G NP_937801.1:p.Leu348Val
NM_198159.2:c.1363C>G NP_937802.1:p.Leu455Val
NM_198177.2:c.1315C>G NP_937820.1:p.Leu439Val
NM_198178.2:c.874C>G NP_937821.2:p.Leu292Val
XM_005264754.1:c.1381C>G XP_005264811.1:p.Leu461Val
XM_005264755.2:c.1333C>G XP_005264812.1:p.Leu445Val
XM_006713164.2:c.1225C>G XP_006713227.1:p.Leu409Val
XM_011533722.1:c.1378C>G XP_011532024.1:p.Leu460Val
XM_011533723.1:c.1330C>G XP_011532025.1:p.Leu444Val
XM_011533724.1:c.1225C>G XP_011532026.1:p.Leu409Val
XM_011533725.1:c.1213C>G XP_011532027.1:p.Leu405Val
XM_011533726.1:c.1195C>G XP_011532028.1:p.Leu399Val
NM_001354604.1:c.1381C>G NP_001341533.1:p.Leu461Val
NM_001354605.1:c.1378C>G NP_001341534.1:p.Leu460Val
NM_001354606.1:c.1360C>G NP_001341535.1:p.Leu454Val
NM_001354607.1:c.1312C>G NP_001341536.1:p.Leu438Val
NM_001354608.1:c.1207C>G NP_001341537.1:p.Leu403Val
NM_001184967.2:c.1207C>G NP_001171896.1:p.Leu403Val
NM_001354604.2:c.1381C>G MANE Select NP_001341533.1:p.Leu461Val
NM_001354605.2:c.1378C>G NP_001341534.1:p.Leu460Val
NM_001354606.2:c.1360C>G NP_001341535.1:p.Leu454Val
NM_001354607.2:c.1312C>G NP_001341536.1:p.Leu438Val
NM_001354608.2:c.1207C>G NP_001341537.1:p.Leu403Val
NM_198158.3:c.1042C>G NP_937801.1:p.Leu348Val
NM_198159.3:c.1363C>G NP_937802.1:p.Leu455Val
NM_198177.3:c.1315C>G NP_937820.1:p.Leu439Val
NM_198178.3:c.874C>G NP_937821.2:p.Leu292Val
NM_000248.4:c.1060C>G MANE Plus Clinical NP_000239.1:p.Leu354Val
NM_006722.3:c.1360C>G NP_006713.1:p.Leu454Val