Canonical Allele Identifier: CA2490651
Community Standard Title: NM_001354604.2(MITF):c.1379A>T (p.Asn460Ile)
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69965046A>T , CM000665.2:g.69965046A>T GRCh38
NC_000003.11:g.70014197A>T , CM000665.1:g.70014197A>T GRCh37
NC_000003.10:g.70096887A>T NCBI36
NG_011631.1:g.230565A>T , LRG_776:g.230565A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001354604.2:c.1379A>T MANE Select NP_001341533.1:p.Asn460Ile
ENST00000352241.9:c.1379A>T MANE Select ENSP00000295600.8:p.Asn460Ile
NM_000248.4:c.1058A>T MANE Plus Clinical NP_000239.1:p.Asn353Ile
ENST00000394351.9:c.1058A>T MANE Plus Clinical ENSP00000377880.3:p.Asn353Ile
NM_000248.3:c.1058A>T , LRG_776t1:c.1058A>T NP_000239.1:p.Asn353Ile
NM_001184967.1:c.1205A>T NP_001171896.1:p.Asn402Ile
NM_001184967.2:c.1205A>T NP_001171896.1:p.Asn402Ile
NM_001354604.1:c.1379A>T NP_001341533.1:p.Asn460Ile
NM_001354605.1:c.1376A>T NP_001341534.1:p.Asn459Ile
NM_001354605.2:c.1376A>T NP_001341534.1:p.Asn459Ile
NM_001354606.1:c.1358A>T NP_001341535.1:p.Asn453Ile
NM_001354606.2:c.1358A>T NP_001341535.1:p.Asn453Ile
NM_001354607.1:c.1310A>T NP_001341536.1:p.Asn437Ile
NM_001354607.2:c.1310A>T NP_001341536.1:p.Asn437Ile
NM_001354608.1:c.1205A>T NP_001341537.1:p.Asn402Ile
NM_001354608.2:c.1205A>T NP_001341537.1:p.Asn402Ile
NM_006722.2:c.1358A>T NP_006713.1:p.Asn453Ile
NM_006722.3:c.1358A>T NP_006713.1:p.Asn453Ile
NM_198158.2:c.1040A>T NP_937801.1:p.Asn347Ile
NM_198158.3:c.1040A>T NP_937801.1:p.Asn347Ile
NM_198159.2:c.1361A>T NP_937802.1:p.Asn454Ile
NM_198159.3:c.1361A>T NP_937802.1:p.Asn454Ile
NM_198177.2:c.1313A>T NP_937820.1:p.Asn438Ile
NM_198177.3:c.1313A>T NP_937820.1:p.Asn438Ile
NM_198178.2:c.872A>T NP_937821.2:p.Asn291Ile
NM_198178.3:c.872A>T NP_937821.2:p.Asn291Ile
ENST00000314557.10:c.1040A>T ENSP00000324246.6:p.Asn347Ile
ENST00000314589.10:c.1313A>T ENSP00000324443.5:p.Asn438Ile
ENST00000314589.11:c.1313A>T ENSP00000324443.5:p.Asn438Ile
ENST00000314589.9:c.1313A>T ENSP00000324443.5:p.Asn438Ile
ENST00000328528.10:c.1358A>T ENSP00000327867.6:p.Asn453Ile
ENST00000352241.8:c.1361A>T ENSP00000295600.7:p.Asn454Ile
ENST00000394351.7:c.1058A>T ENSP00000377880.3:p.Asn353Ile
ENST00000448226.6:c.1379A>T ENSP00000391803.2:p.Asn460Ile
ENST00000448226.9:c.1358A>T ENSP00000391803.3:p.Asn453Ile
ENST00000472437.5:c.1205A>T ENSP00000418845.1:p.Asn402Ile
ENST00000478490.5:c.*705A>T ENSP00000433487.1:n.*705A>T
ENST00000531774.1:c.872A>T ENSP00000435909.1:p.Asn291Ile
ENST00000642352.1:c.1361A>T ENSP00000494105.1:p.Asn454Ile
ENST00000687384.1:c.1310A>T ENSP00000510225.1:p.Asn437Ile
ENST00000689390.1:n.1535A>T
ENST00000693031.1:c.1286A>T ENSP00000509845.1:p.Asn429Ile
ENST00000693549.1:c.*124A>T ENSP00000509358.1:n.*124A>T
XM_005264754.1:c.1379A>T XP_005264811.1:p.Asn460Ile
XM_005264755.2:c.1331A>T XP_005264812.1:p.Asn444Ile
XM_006713164.2:c.1223A>T XP_006713227.1:p.Asn408Ile
XM_011533722.1:c.1376A>T XP_011532024.1:p.Asn459Ile
XM_011533723.1:c.1328A>T XP_011532025.1:p.Asn443Ile
XM_011533724.1:c.1223A>T XP_011532026.1:p.Asn408Ile
XM_011533725.1:c.1211A>T XP_011532027.1:p.Asn404Ile
XM_011533726.1:c.1193A>T XP_011532028.1:p.Asn398Ile