Canonical Allele Identifier: CA374931438
Community Standard Title: NM_001005373.4(LRSAM1):c.940C>T (p.Gln314Ter)
Gene: LRSAM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127479875C>T , CM000671.2:g.127479875C>T GRCh38
NC_000009.11:g.130242154C>T , CM000671.1:g.130242154C>T GRCh37
NC_000009.10:g.129281975C>T NCBI36
NG_032008.1:g.33390C>T , LRG_373:g.33390C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001005373.4:c.940C>T MANE Select NP_001005373.1:p.Gln314Ter
ENST00000300417.11:c.940C>T MANE Select ENSP00000300417.6:p.Gln314Ter
NM_001005373.3:c.940C>T NP_001005373.1:p.Gln314Ter
NM_001005374.3:c.940C>T NP_001005374.1:p.Gln314Ter
NM_001005374.4:c.940C>T NP_001005374.1:p.Gln314Ter
NM_001190723.2:c.940C>T NP_001177652.1:p.Gln314Ter
NM_001190723.3:c.940C>T NP_001177652.1:p.Gln314Ter
NM_001384142.1:c.940C>T NP_001371071.1:p.Gln314Ter
NM_001384143.1:c.940C>T NP_001371072.1:p.Gln314Ter
NM_001384144.1:c.151C>T NP_001371073.1:p.Gln51Ter
NM_138361.5:c.940C>T , LRG_373t1:c.940C>T NP_612370.3:p.Gln314Ter
NR_168891.1:n.1288C>T
NR_168892.1:n.1288C>T
ENST00000300417.10:c.940C>T ENSP00000300417.6:p.Gln314Ter
ENST00000323301.8:c.940C>T ENSP00000322937.4:p.Gln314Ter
ENST00000373322.1:c.940C>T ENSP00000362419.1:p.Gln314Ter
ENST00000373324.8:c.940C>T ENSP00000362421.4:p.Gln314Ter
ENST00000472068.2:c.*663C>T ENSP00000501555.1:n.*663C>T
ENST00000483302.5:n.157C>T
ENST00000498513.5:n.193C>T
ENST00000498513.6:c.193C>T ENSP00000501637.1:p.Gln65Ter
ENST00000674511.1:n.815C>T
ENST00000674516.1:c.940C>T ENSP00000502441.1:p.Gln314Ter
ENST00000674621.1:n.846C>T
ENST00000674771.1:c.940C>T ENSP00000502627.1:p.Gln314Ter
ENST00000674784.1:c.*170C>T ENSP00000501837.1:n.*170C>T
ENST00000674970.1:c.*714C>T ENSP00000502493.1:n.*714C>T
ENST00000675012.1:n.820C>T
ENST00000675141.1:c.940C>T ENSP00000502420.1:p.Gln314Ter
ENST00000675198.1:n.842C>T
ENST00000675213.1:c.895C>T ENSP00000502218.1:p.Gln299Ter
ENST00000675224.1:c.940C>T ENSP00000501869.1:p.Gln314Ter
ENST00000675253.1:c.940C>T ENSP00000502557.1:p.Gln314Ter
ENST00000675445.1:c.*612C>T ENSP00000502253.1:n.*612C>T
ENST00000675448.1:c.940C>T ENSP00000502167.1:p.Gln314Ter
ENST00000675521.1:n.792C>T
ENST00000675572.1:c.940C>T ENSP00000501598.1:p.Gln314Ter
ENST00000675641.1:c.940C>T ENSP00000501845.1:p.Gln314Ter
ENST00000675657.1:c.940C>T ENSP00000502002.1:p.Gln314Ter
ENST00000675662.1:n.833C>T
ENST00000675789.1:c.940C>T ENSP00000501954.1:p.Gln314Ter
ENST00000675883.1:c.940C>T ENSP00000501592.1:p.Gln314Ter
ENST00000675945.1:c.940C>T ENSP00000501835.1:p.Gln314Ter
ENST00000676014.1:c.883C>T ENSP00000502058.1:p.Gln295Ter
ENST00000676035.1:n.701C>T
ENST00000676106.1:n.745C>T
ENST00000676137.1:n.831C>T
ENST00000676170.1:c.940C>T ENSP00000502177.1:p.Gln314Ter
ENST00000676318.1:c.940C>T ENSP00000502300.1:p.Gln314Ter
ENST00000676336.1:c.718C>T ENSP00000502686.1:p.Gln240Ter
ENST00000676349.1:c.*709C>T ENSP00000502155.1:n.*709C>T
ENST00000676399.1:n.838C>T
ENST00000676409.1:n.819C>T
XM_006717316.2:c.940C>T XP_006717379.1:p.Gln314Ter
XM_006717316.4:c.940C>T XP_006717379.1:p.Gln314Ter
XM_017015283.1:c.940C>T XP_016870772.1:p.Gln314Ter
XM_017015284.2:c.151C>T XP_016870773.1:p.Gln51Ter
XR_001746415.2:n.1294C>T
XR_929874.1:n.1312C>T
XR_929874.3:n.1294C>T