Canonical Allele Identifier: CA374938757
Community Standard Title: NM_001005373.4(LRSAM1):c.2089C>T (p.Gln697Ter)
Gene: LRSAM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127502816C>T , CM000671.2:g.127502816C>T GRCh38
NC_000009.11:g.130265095C>T , CM000671.1:g.130265095C>T GRCh37
NC_000009.10:g.129304916C>T NCBI36
NG_032008.1:g.56331C>T , LRG_373:g.56331C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001005373.4:c.2089C>T MANE Select NP_001005373.1:p.Gln697Ter
ENST00000300417.11:c.2089C>T MANE Select ENSP00000300417.6:p.Gln697Ter
NM_001005373.3:c.2089C>T NP_001005373.1:p.Gln697Ter
NM_001005374.3:c.2089C>T NP_001005374.1:p.Gln697Ter
NM_001005374.4:c.2089C>T NP_001005374.1:p.Gln697Ter
NM_001190723.2:c.2008C>T NP_001177652.1:p.Gln670Ter
NM_001190723.3:c.2008C>T NP_001177652.1:p.Gln670Ter
NM_001384142.1:c.2089C>T NP_001371071.1:p.Gln697Ter
NM_001384143.1:c.1990C>T NP_001371072.1:p.Gln664Ter
NM_001384144.1:c.1300C>T NP_001371073.1:p.Gln434Ter
NM_138361.5:c.2089C>T , LRG_373t1:c.2089C>T NP_612370.3:p.Gln697Ter
NR_168891.1:n.2618C>T
NR_168892.1:n.2442C>T
ENST00000300417.10:c.2089C>T ENSP00000300417.6:p.Gln697Ter
ENST00000323301.8:c.2089C>T ENSP00000322937.4:p.Gln697Ter
ENST00000373322.1:c.2089C>T ENSP00000362419.1:p.Gln697Ter
ENST00000373324.8:c.2008C>T ENSP00000362421.4:p.Gln670Ter
ENST00000483302.5:n.1311C>T
ENST00000483302.6:n.2754C>T
ENST00000498513.6:c.*980C>T ENSP00000501637.1:n.*980C>T
ENST00000674511.1:n.1688C>T
ENST00000674516.1:c.*705C>T ENSP00000502441.1:n.*705C>T
ENST00000674621.1:n.1861-557C>T
ENST00000674771.1:c.*732C>T ENSP00000502627.1:n.*732C>T
ENST00000674784.1:c.*1149C>T ENSP00000501837.1:n.*1149C>T
ENST00000674970.1:c.*1863C>T ENSP00000502493.1:n.*1863C>T
ENST00000675012.1:n.2033C>T
ENST00000675141.1:c.1990C>T ENSP00000502420.1:p.Gln664Ter
ENST00000675198.1:n.1969C>T
ENST00000675213.1:c.2044C>T ENSP00000502218.1:p.Gln682Ter
ENST00000675224.1:c.*155C>T ENSP00000501869.1:n.*155C>T
ENST00000675253.1:c.*761C>T ENSP00000502557.1:n.*761C>T
ENST00000675445.1:c.*1761C>T ENSP00000502253.1:n.*1761C>T
ENST00000675448.1:c.2089C>T ENSP00000502167.1:p.Gln697Ter
ENST00000675521.1:n.1999C>T
ENST00000675572.1:c.1990C>T ENSP00000501598.1:p.Gln664Ter
ENST00000675641.1:c.*831C>T ENSP00000501845.1:n.*831C>T
ENST00000675657.1:c.*702C>T ENSP00000502002.1:n.*702C>T
ENST00000675662.1:n.1884C>T
ENST00000675789.1:c.1909C>T ENSP00000501954.1:p.Gln637Ter
ENST00000675883.1:c.2008C>T ENSP00000501592.1:p.Gln670Ter
ENST00000675945.1:c.*730C>T ENSP00000501835.1:n.*730C>T
ENST00000676014.1:c.2032C>T ENSP00000502058.1:p.Gln678Ter
ENST00000676035.1:n.1751C>T
ENST00000676106.1:n.2126C>T
ENST00000676137.1:n.2119C>T
ENST00000676170.1:c.2170C>T ENSP00000502177.1:p.Gln724Ter
ENST00000676318.1:c.*2919C>T ENSP00000502300.1:n.*2919C>T
ENST00000676336.1:c.*702C>T ENSP00000502686.1:n.*702C>T
ENST00000676349.1:c.*1777C>T ENSP00000502155.1:n.*1777C>T
ENST00000676399.1:n.1992C>T
ENST00000676409.1:n.2149C>T
XM_006717316.2:c.1990C>T XP_006717379.1:p.Gln664Ter
XM_006717316.4:c.1990C>T XP_006717379.1:p.Gln664Ter
XM_017015283.1:c.2089C>T XP_016870772.1:p.Gln697Ter
XM_017015284.2:c.1300C>T XP_016870773.1:p.Gln434Ter
XR_001746415.2:n.2624C>T
XR_929874.3:n.2448C>T