Canonical Allele Identifier: CA5246974
Community Standard Title: NM_001005373.4(LRSAM1):c.1406G>A (p.Arg469Gln)
Gene: LRSAM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127489502G>A , CM000671.2:g.127489502G>A GRCh38
NC_000009.11:g.130251781G>A , CM000671.1:g.130251781G>A GRCh37
NC_000009.10:g.129291602G>A NCBI36
NG_032008.1:g.43017G>A , LRG_373:g.43017G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001005373.4:c.1406G>A MANE Select NP_001005373.1:p.Arg469Gln
ENST00000300417.11:c.1406G>A MANE Select ENSP00000300417.6:p.Arg469Gln
NM_001005373.3:c.1406G>A NP_001005373.1:p.Arg469Gln
NM_001005374.3:c.1406G>A NP_001005374.1:p.Arg469Gln
NM_001005374.4:c.1406G>A NP_001005374.1:p.Arg469Gln
NM_001190723.2:c.1406G>A NP_001177652.1:p.Arg469Gln
NM_001190723.3:c.1406G>A NP_001177652.1:p.Arg469Gln
NM_001384142.1:c.1406G>A NP_001371071.1:p.Arg469Gln
NM_001384143.1:c.1406G>A NP_001371072.1:p.Arg469Gln
NM_001384144.1:c.617G>A NP_001371073.1:p.Arg206Gln
NM_138361.5:c.1406G>A , LRG_373t1:c.1406G>A NP_612370.3:p.Arg469Gln
NR_168891.1:n.1935G>A
NR_168892.1:n.1759G>A
ENST00000300417.10:c.1406G>A ENSP00000300417.6:p.Arg469Gln
ENST00000323301.8:c.1406G>A ENSP00000322937.4:p.Arg469Gln
ENST00000373322.1:c.1406G>A ENSP00000362419.1:p.Arg469Gln
ENST00000373324.8:c.1406G>A ENSP00000362421.4:p.Arg469Gln
ENST00000472068.1:n.398G>A
ENST00000472068.2:c.*1134G>A ENSP00000501555.1:n.*1134G>A
ENST00000483302.5:n.628G>A
ENST00000483302.6:n.203G>A
ENST00000498513.6:c.*297G>A ENSP00000501637.1:n.*297G>A
ENST00000674511.1:n.1281G>A
ENST00000674516.1:c.1406G>A ENSP00000502441.1:p.Arg469Gln
ENST00000674621.1:n.1456G>A
ENST00000674771.1:c.*148G>A ENSP00000502627.1:n.*148G>A
ENST00000674784.1:c.*565G>A ENSP00000501837.1:n.*565G>A
ENST00000674970.1:c.*1180G>A ENSP00000502493.1:n.*1180G>A
ENST00000675012.1:n.1350G>A
ENST00000675141.1:c.1406G>A ENSP00000502420.1:p.Arg469Gln
ENST00000675198.1:n.1367G>A
ENST00000675213.1:c.1361G>A ENSP00000502218.1:p.Arg454Gln
ENST00000675224.1:c.1406G>A ENSP00000501869.1:p.Arg469Gln
ENST00000675253.1:c.*258G>A ENSP00000502557.1:n.*258G>A
ENST00000675445.1:c.*1078G>A ENSP00000502253.1:n.*1078G>A
ENST00000675448.1:c.1406G>A ENSP00000502167.1:p.Arg469Gln
ENST00000675521.1:n.1397G>A
ENST00000675572.1:c.1406G>A ENSP00000501598.1:p.Arg469Gln
ENST00000675641.1:c.*148G>A ENSP00000501845.1:n.*148G>A
ENST00000675657.1:c.*19G>A ENSP00000502002.1:n.*19G>A
ENST00000675662.1:n.1201G>A
ENST00000675789.1:c.1406G>A ENSP00000501954.1:p.Arg469Gln
ENST00000675883.1:c.1406G>A ENSP00000501592.1:p.Arg469Gln
ENST00000675945.1:c.*228G>A ENSP00000501835.1:n.*228G>A
ENST00000676014.1:c.1349G>A ENSP00000502058.1:p.Arg450Gln
ENST00000676035.1:n.1167G>A
ENST00000676106.1:n.1211G>A
ENST00000676137.1:n.1436G>A
ENST00000676170.1:c.1487G>A ENSP00000502177.1:p.Arg496Gln
ENST00000676318.1:c.*148G>A ENSP00000502300.1:n.*148G>A
ENST00000676336.1:c.*19G>A ENSP00000502686.1:n.*19G>A
ENST00000676349.1:c.*1175G>A ENSP00000502155.1:n.*1175G>A
ENST00000676399.1:n.1309G>A
ENST00000676409.1:n.1466G>A
XM_006717316.2:c.1406G>A XP_006717379.1:p.Arg469Gln
XM_006717316.4:c.1406G>A XP_006717379.1:p.Arg469Gln
XM_017015283.1:c.1406G>A XP_016870772.1:p.Arg469Gln
XM_017015284.2:c.617G>A XP_016870773.1:p.Arg206Gln
XR_001746415.2:n.1941G>A
XR_929874.1:n.1783G>A
XR_929874.3:n.1765G>A