Canonical Allele Identifier: CA353559849
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69965106A>T , CM000665.2:g.69965106A>T GRCh38
NC_000003.11:g.70014257A>T , CM000665.1:g.70014257A>T GRCh37
NC_000003.10:g.70096947A>T NCBI36
NG_011631.1:g.230625A>T , LRG_776:g.230625A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1373A>T ENSP00000324443.5:p.Lys458Ile
ENST00000687384.1:c.1370A>T ENSP00000510225.1:p.Lys457Ile
ENST00000689390.1:n.1595A>T
ENST00000693031.1:c.1346A>T ENSP00000509845.1:p.Lys449Ile
ENST00000693549.1:c.*184A>T ENSP00000509358.1:n.*184A>T
ENST00000314589.10:c.1373A>T ENSP00000324443.5:p.Lys458Ile
ENST00000352241.9:c.1439A>T MANE Select ENSP00000295600.8:p.Lys480Ile
ENST00000394351.9:c.1118A>T MANE Plus Clinical ENSP00000377880.3:p.Lys373Ile
ENST00000448226.9:c.1418A>T ENSP00000391803.3:p.Lys473Ile
ENST00000642352.1:c.1421A>T ENSP00000494105.1:p.Lys474Ile
ENST00000314557.10:c.1100A>T ENSP00000324246.6:p.Lys367Ile
ENST00000314589.9:c.1373A>T ENSP00000324443.5:p.Lys458Ile
ENST00000328528.10:c.1418A>T ENSP00000327867.6:p.Lys473Ile
ENST00000352241.8:c.1421A>T ENSP00000295600.7:p.Lys474Ile
ENST00000394351.7:c.1118A>T ENSP00000377880.3:p.Lys373Ile
ENST00000448226.6:c.1439A>T ENSP00000391803.2:p.Lys480Ile
ENST00000472437.5:c.1265A>T ENSP00000418845.1:p.Lys422Ile
ENST00000478490.5:c.*765A>T ENSP00000433487.1:n.*765A>T
ENST00000531774.1:c.932A>T ENSP00000435909.1:p.Lys311Ile
NM_000248.3:c.1118A>T , LRG_776t1:c.1118A>T NP_000239.1:p.Lys373Ile
NM_001184967.1:c.1265A>T NP_001171896.1:p.Lys422Ile
NM_006722.2:c.1418A>T NP_006713.1:p.Lys473Ile
NM_198158.2:c.1100A>T NP_937801.1:p.Lys367Ile
NM_198159.2:c.1421A>T NP_937802.1:p.Lys474Ile
NM_198177.2:c.1373A>T NP_937820.1:p.Lys458Ile
NM_198178.2:c.932A>T NP_937821.2:p.Lys311Ile
XM_005264754.1:c.1439A>T XP_005264811.1:p.Lys480Ile
XM_005264755.2:c.1391A>T XP_005264812.1:p.Lys464Ile
XM_006713164.2:c.1283A>T XP_006713227.1:p.Lys428Ile
XM_011533722.1:c.1436A>T XP_011532024.1:p.Lys479Ile
XM_011533723.1:c.1388A>T XP_011532025.1:p.Lys463Ile
XM_011533724.1:c.1283A>T XP_011532026.1:p.Lys428Ile
XM_011533725.1:c.1271A>T XP_011532027.1:p.Lys424Ile
XM_011533726.1:c.1253A>T XP_011532028.1:p.Lys418Ile
NM_001354604.1:c.1439A>T NP_001341533.1:p.Lys480Ile
NM_001354605.1:c.1436A>T NP_001341534.1:p.Lys479Ile
NM_001354606.1:c.1418A>T NP_001341535.1:p.Lys473Ile
NM_001354607.1:c.1370A>T NP_001341536.1:p.Lys457Ile
NM_001354608.1:c.1265A>T NP_001341537.1:p.Lys422Ile
NM_001184967.2:c.1265A>T NP_001171896.1:p.Lys422Ile
NM_001354604.2:c.1439A>T MANE Select NP_001341533.1:p.Lys480Ile
NM_001354605.2:c.1436A>T NP_001341534.1:p.Lys479Ile
NM_001354606.2:c.1418A>T NP_001341535.1:p.Lys473Ile
NM_001354607.2:c.1370A>T NP_001341536.1:p.Lys457Ile
NM_001354608.2:c.1265A>T NP_001341537.1:p.Lys422Ile
NM_198158.3:c.1100A>T NP_937801.1:p.Lys367Ile
NM_198159.3:c.1421A>T NP_937802.1:p.Lys474Ile
NM_198177.3:c.1373A>T NP_937820.1:p.Lys458Ile
NM_198178.3:c.932A>T NP_937821.2:p.Lys311Ile
NM_000248.4:c.1118A>T MANE Plus Clinical NP_000239.1:p.Lys373Ile
NM_006722.3:c.1418A>T NP_006713.1:p.Lys473Ile