Canonical Allele Identifier: CA2490648
Community Standard Title: NM_001354604.2(MITF):c.1353G>A (p.Thr451=)
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69965020G>A , CM000665.2:g.69965020G>A GRCh38
NC_000003.11:g.70014171G>A , CM000665.1:g.70014171G>A GRCh37
NC_000003.10:g.70096861G>A NCBI36
NG_011631.1:g.230539G>A , LRG_776:g.230539G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001354604.2:c.1353G>A MANE Select NP_001341533.1:p.Thr451=
ENST00000352241.9:c.1353G>A MANE Select ENSP00000295600.8:p.Thr451=
NM_000248.4:c.1032G>A MANE Plus Clinical NP_000239.1:p.Thr344=
ENST00000394351.9:c.1032G>A MANE Plus Clinical ENSP00000377880.3:p.Thr344=
NM_000248.3:c.1032G>A , LRG_776t1:c.1032G>A NP_000239.1:p.Thr344=
NM_001184967.1:c.1179G>A NP_001171896.1:p.Thr393=
NM_001184967.2:c.1179G>A NP_001171896.1:p.Thr393=
NM_001354604.1:c.1353G>A NP_001341533.1:p.Thr451=
NM_001354605.1:c.1350G>A NP_001341534.1:p.Thr450=
NM_001354605.2:c.1350G>A NP_001341534.1:p.Thr450=
NM_001354606.1:c.1332G>A NP_001341535.1:p.Thr444=
NM_001354606.2:c.1332G>A NP_001341535.1:p.Thr444=
NM_001354607.1:c.1284G>A NP_001341536.1:p.Thr428=
NM_001354607.2:c.1284G>A NP_001341536.1:p.Thr428=
NM_001354608.1:c.1179G>A NP_001341537.1:p.Thr393=
NM_001354608.2:c.1179G>A NP_001341537.1:p.Thr393=
NM_006722.2:c.1332G>A NP_006713.1:p.Thr444=
NM_006722.3:c.1332G>A NP_006713.1:p.Thr444=
NM_198158.2:c.1014G>A NP_937801.1:p.Thr338=
NM_198158.3:c.1014G>A NP_937801.1:p.Thr338=
NM_198159.2:c.1335G>A NP_937802.1:p.Thr445=
NM_198159.3:c.1335G>A NP_937802.1:p.Thr445=
NM_198177.2:c.1287G>A NP_937820.1:p.Thr429=
NM_198177.3:c.1287G>A NP_937820.1:p.Thr429=
NM_198178.2:c.846G>A NP_937821.2:p.Thr282=
NM_198178.3:c.846G>A NP_937821.2:p.Thr282=
ENST00000314557.10:c.1014G>A ENSP00000324246.6:p.Thr338=
ENST00000314589.10:c.1287G>A ENSP00000324443.5:p.Thr429=
ENST00000314589.11:c.1287G>A ENSP00000324443.5:p.Thr429=
ENST00000314589.9:c.1287G>A ENSP00000324443.5:p.Thr429=
ENST00000328528.10:c.1332G>A ENSP00000327867.6:p.Thr444=
ENST00000352241.8:c.1335G>A ENSP00000295600.7:p.Thr445=
ENST00000394351.7:c.1032G>A ENSP00000377880.3:p.Thr344=
ENST00000448226.6:c.1353G>A ENSP00000391803.2:p.Thr451=
ENST00000448226.9:c.1332G>A ENSP00000391803.3:p.Thr444=
ENST00000472437.5:c.1179G>A ENSP00000418845.1:p.Thr393=
ENST00000478490.5:c.*679G>A ENSP00000433487.1:n.*679G>A
ENST00000531774.1:c.846G>A ENSP00000435909.1:p.Thr282=
ENST00000642352.1:c.1335G>A ENSP00000494105.1:p.Thr445=
ENST00000687384.1:c.1284G>A ENSP00000510225.1:p.Thr428=
ENST00000689390.1:n.1509G>A
ENST00000693031.1:c.1260G>A ENSP00000509845.1:p.Thr420=
ENST00000693549.1:c.*98G>A ENSP00000509358.1:n.*98G>A
XM_005264754.1:c.1353G>A XP_005264811.1:p.Thr451=
XM_005264755.2:c.1305G>A XP_005264812.1:p.Thr435=
XM_006713164.2:c.1197G>A XP_006713227.1:p.Thr399=
XM_011533722.1:c.1350G>A XP_011532024.1:p.Thr450=
XM_011533723.1:c.1302G>A XP_011532025.1:p.Thr434=
XM_011533724.1:c.1197G>A XP_011532026.1:p.Thr399=
XM_011533725.1:c.1185G>A XP_011532027.1:p.Thr395=
XM_011533726.1:c.1167G>A XP_011532028.1:p.Thr389=