Canonical Allele Identifier: CA1373414364
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69965118T= , CM000665.2:g.69965118T= GRCh38
NC_000003.11:g.70014269T= , CM000665.1:g.70014269T= GRCh37
NC_000003.10:g.70096959T= NCBI36
NG_011631.1:g.230637T= , LRG_776:g.230637T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1385T= ENSP00000324443.5:p.Ile462=
ENST00000687384.1:c.1382T= ENSP00000510225.1:p.Ile461=
ENST00000689390.1:n.1607T=
ENST00000693031.1:c.1358T= ENSP00000509845.1:p.Ile453=
ENST00000693549.1:c.*196T= ENSP00000509358.1:n.*196T=
ENST00000314589.10:c.1385T= ENSP00000324443.5:p.Ile462=
ENST00000352241.9:c.1451T= MANE Select ENSP00000295600.8:p.Ile484=
ENST00000394351.9:c.1130T= MANE Plus Clinical ENSP00000377880.3:p.Ile377=
ENST00000448226.9:c.1430T= ENSP00000391803.3:p.Ile477=
ENST00000642352.1:c.1433T= ENSP00000494105.1:p.Ile478=
ENST00000314557.10:c.1112T= ENSP00000324246.6:p.Ile371=
ENST00000314589.9:c.1385T= ENSP00000324443.5:p.Ile462=
ENST00000328528.10:c.1430T= ENSP00000327867.6:p.Ile477=
ENST00000352241.8:c.1433T= ENSP00000295600.7:p.Ile478=
ENST00000394351.7:c.1130T= ENSP00000377880.3:p.Ile377=
ENST00000448226.6:c.1451T= ENSP00000391803.2:p.Ile484=
ENST00000472437.5:c.1277T= ENSP00000418845.1:p.Ile426=
ENST00000478490.5:c.*777T= ENSP00000433487.1:n.*777T=
ENST00000531774.1:c.944T= ENSP00000435909.1:p.Ile315=
NM_000248.3:c.1130T= , LRG_776t1:c.1130T= NP_000239.1:p.Ile377=
NM_001184967.1:c.1277T= NP_001171896.1:p.Ile426=
NM_006722.2:c.1430T= NP_006713.1:p.Ile477=
NM_198158.2:c.1112T= NP_937801.1:p.Ile371=
NM_198159.2:c.1433T= NP_937802.1:p.Ile478=
NM_198177.2:c.1385T= NP_937820.1:p.Ile462=
NM_198178.2:c.944T= NP_937821.2:p.Ile315=
XM_005264754.1:c.1451T= XP_005264811.1:p.Ile484=
XM_005264755.2:c.1403T= XP_005264812.1:p.Ile468=
XM_006713164.2:c.1295T= XP_006713227.1:p.Ile432=
XM_011533722.1:c.1448T= XP_011532024.1:p.Ile483=
XM_011533723.1:c.1400T= XP_011532025.1:p.Ile467=
XM_011533724.1:c.1295T= XP_011532026.1:p.Ile432=
XM_011533725.1:c.1283T= XP_011532027.1:p.Ile428=
XM_011533726.1:c.1265T= XP_011532028.1:p.Ile422=
NM_001354604.1:c.1451T= NP_001341533.1:p.Ile484=
NM_001354605.1:c.1448T= NP_001341534.1:p.Ile483=
NM_001354606.1:c.1430T= NP_001341535.1:p.Ile477=
NM_001354607.1:c.1382T= NP_001341536.1:p.Ile461=
NM_001354608.1:c.1277T= NP_001341537.1:p.Ile426=
NM_001184967.2:c.1277T= NP_001171896.1:p.Ile426=
NM_001354604.2:c.1451T= MANE Select NP_001341533.1:p.Ile484=
NM_001354605.2:c.1448T= NP_001341534.1:p.Ile483=
NM_001354606.2:c.1430T= NP_001341535.1:p.Ile477=
NM_001354607.2:c.1382T= NP_001341536.1:p.Ile461=
NM_001354608.2:c.1277T= NP_001341537.1:p.Ile426=
NM_198158.3:c.1112T= NP_937801.1:p.Ile371=
NM_198159.3:c.1433T= NP_937802.1:p.Ile478=
NM_198177.3:c.1385T= NP_937820.1:p.Ile462=
NM_198178.3:c.944T= NP_937821.2:p.Ile315=
NM_000248.4:c.1130T= MANE Plus Clinical NP_000239.1:p.Ile377=
NM_006722.3:c.1430T= NP_006713.1:p.Ile477=