Canonical Allele Identifier: CA5246973
Community Standard Title: NM_001005373.4(LRSAM1):c.1405C>T (p.Arg469Trp)
Gene: LRSAM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127489501C>T , CM000671.2:g.127489501C>T GRCh38
NC_000009.11:g.130251780C>T , CM000671.1:g.130251780C>T GRCh37
NC_000009.10:g.129291601C>T NCBI36
NG_032008.1:g.43016C>T , LRG_373:g.43016C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001005373.4:c.1405C>T MANE Select NP_001005373.1:p.Arg469Trp
ENST00000300417.11:c.1405C>T MANE Select ENSP00000300417.6:p.Arg469Trp
NM_001005373.3:c.1405C>T NP_001005373.1:p.Arg469Trp
NM_001005374.3:c.1405C>T NP_001005374.1:p.Arg469Trp
NM_001005374.4:c.1405C>T NP_001005374.1:p.Arg469Trp
NM_001190723.2:c.1405C>T NP_001177652.1:p.Arg469Trp
NM_001190723.3:c.1405C>T NP_001177652.1:p.Arg469Trp
NM_001384142.1:c.1405C>T NP_001371071.1:p.Arg469Trp
NM_001384143.1:c.1405C>T NP_001371072.1:p.Arg469Trp
NM_001384144.1:c.616C>T NP_001371073.1:p.Arg206Trp
NM_138361.5:c.1405C>T , LRG_373t1:c.1405C>T NP_612370.3:p.Arg469Trp
NR_168891.1:n.1934C>T
NR_168892.1:n.1758C>T
ENST00000300417.10:c.1405C>T ENSP00000300417.6:p.Arg469Trp
ENST00000323301.8:c.1405C>T ENSP00000322937.4:p.Arg469Trp
ENST00000373322.1:c.1405C>T ENSP00000362419.1:p.Arg469Trp
ENST00000373324.8:c.1405C>T ENSP00000362421.4:p.Arg469Trp
ENST00000472068.1:n.397C>T
ENST00000472068.2:c.*1133C>T ENSP00000501555.1:n.*1133C>T
ENST00000483302.5:n.627C>T
ENST00000483302.6:n.202C>T
ENST00000498513.6:c.*296C>T ENSP00000501637.1:n.*296C>T
ENST00000674511.1:n.1280C>T
ENST00000674516.1:c.1405C>T ENSP00000502441.1:p.Arg469Trp
ENST00000674621.1:n.1455C>T
ENST00000674771.1:c.*147C>T ENSP00000502627.1:n.*147C>T
ENST00000674784.1:c.*564C>T ENSP00000501837.1:n.*564C>T
ENST00000674970.1:c.*1179C>T ENSP00000502493.1:n.*1179C>T
ENST00000675012.1:n.1349C>T
ENST00000675141.1:c.1405C>T ENSP00000502420.1:p.Arg469Trp
ENST00000675198.1:n.1366C>T
ENST00000675213.1:c.1360C>T ENSP00000502218.1:p.Arg454Trp
ENST00000675224.1:c.1405C>T ENSP00000501869.1:p.Arg469Trp
ENST00000675253.1:c.*257C>T ENSP00000502557.1:n.*257C>T
ENST00000675445.1:c.*1077C>T ENSP00000502253.1:n.*1077C>T
ENST00000675448.1:c.1405C>T ENSP00000502167.1:p.Arg469Trp
ENST00000675521.1:n.1396C>T
ENST00000675572.1:c.1405C>T ENSP00000501598.1:p.Arg469Trp
ENST00000675641.1:c.*147C>T ENSP00000501845.1:n.*147C>T
ENST00000675657.1:c.*18C>T ENSP00000502002.1:n.*18C>T
ENST00000675662.1:n.1200C>T
ENST00000675789.1:c.1405C>T ENSP00000501954.1:p.Arg469Trp
ENST00000675883.1:c.1405C>T ENSP00000501592.1:p.Arg469Trp
ENST00000675945.1:c.*227C>T ENSP00000501835.1:n.*227C>T
ENST00000676014.1:c.1348C>T ENSP00000502058.1:p.Arg450Trp
ENST00000676035.1:n.1166C>T
ENST00000676106.1:n.1210C>T
ENST00000676137.1:n.1435C>T
ENST00000676170.1:c.1486C>T ENSP00000502177.1:p.Arg496Trp
ENST00000676318.1:c.*147C>T ENSP00000502300.1:n.*147C>T
ENST00000676336.1:c.*18C>T ENSP00000502686.1:n.*18C>T
ENST00000676349.1:c.*1174C>T ENSP00000502155.1:n.*1174C>T
ENST00000676399.1:n.1308C>T
ENST00000676409.1:n.1465C>T
XM_006717316.2:c.1405C>T XP_006717379.1:p.Arg469Trp
XM_006717316.4:c.1405C>T XP_006717379.1:p.Arg469Trp
XM_017015283.1:c.1405C>T XP_016870772.1:p.Arg469Trp
XM_017015284.2:c.616C>T XP_016870773.1:p.Arg206Trp
XR_001746415.2:n.1940C>T
XR_929874.1:n.1782C>T
XR_929874.3:n.1764C>T