Canonical Allele Identifier: CA374938298
Gene: LRSAM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127501105G>C , CM000671.2:g.127501105G>C GRCh38
NC_000009.11:g.130263384G>C , CM000671.1:g.130263384G>C GRCh37
NC_000009.10:g.129303205G>C NCBI36
NG_032008.1:g.54620G>C , LRG_373:g.54620G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300417.11:c.2008G>C MANE Select ENSP00000300417.6:p.Val670Leu
ENST00000472068.2:c.*1732G>C ENSP00000501555.1:n.*1732G>C
ENST00000483302.6:n.2673G>C
ENST00000498513.6:c.*899G>C ENSP00000501637.1:n.*899G>C
ENST00000674511.1:n.1607G>C
ENST00000674516.1:c.*624G>C ENSP00000502441.1:n.*624G>C
ENST00000674621.1:n.1861-2268G>C
ENST00000674771.1:c.*651G>C ENSP00000502627.1:n.*651G>C
ENST00000674784.1:c.*1068G>C ENSP00000501837.1:n.*1068G>C
ENST00000674970.1:c.*1782G>C ENSP00000502493.1:n.*1782G>C
ENST00000675012.1:n.1952G>C
ENST00000675141.1:c.1909G>C ENSP00000502420.1:p.Val637Leu
ENST00000675198.1:n.1888G>C
ENST00000675213.1:c.1963G>C ENSP00000502218.1:p.Val655Leu
ENST00000675224.1:c.*74G>C ENSP00000501869.1:n.*74G>C
ENST00000675253.1:c.*680G>C ENSP00000502557.1:n.*680G>C
ENST00000675445.1:c.*1680G>C ENSP00000502253.1:n.*1680G>C
ENST00000675448.1:c.2008G>C ENSP00000502167.1:p.Val670Leu
ENST00000675521.1:n.1918G>C
ENST00000675572.1:c.1909G>C ENSP00000501598.1:p.Val637Leu
ENST00000675641.1:c.*750G>C ENSP00000501845.1:n.*750G>C
ENST00000675657.1:c.*621G>C ENSP00000502002.1:n.*621G>C
ENST00000675662.1:n.1803G>C
ENST00000675789.1:c.1828G>C ENSP00000501954.1:p.Val610Leu
ENST00000675883.1:c.1927G>C ENSP00000501592.1:p.Val643Leu
ENST00000675945.1:c.*649G>C ENSP00000501835.1:n.*649G>C
ENST00000676014.1:c.1951G>C ENSP00000502058.1:p.Val651Leu
ENST00000676035.1:n.1670G>C
ENST00000676106.1:n.2045G>C
ENST00000676137.1:n.2038G>C
ENST00000676170.1:c.2089G>C ENSP00000502177.1:p.Val697Leu
ENST00000676318.1:c.*2838G>C ENSP00000502300.1:n.*2838G>C
ENST00000676336.1:c.*621G>C ENSP00000502686.1:n.*621G>C
ENST00000676349.1:c.*1696G>C ENSP00000502155.1:n.*1696G>C
ENST00000676399.1:n.1911G>C
ENST00000676409.1:n.2068G>C
ENST00000300417.10:c.2008G>C ENSP00000300417.6:p.Val670Leu
ENST00000323301.8:c.2008G>C ENSP00000322937.4:p.Val670Leu
ENST00000373322.1:c.2008G>C ENSP00000362419.1:p.Val670Leu
ENST00000373324.8:c.1927G>C ENSP00000362421.4:p.Val643Leu
ENST00000483302.5:n.1230G>C
NM_001005373.3:c.2008G>C NP_001005373.1:p.Val670Leu
NM_001005374.3:c.2008G>C NP_001005374.1:p.Val670Leu
NM_001190723.2:c.1927G>C NP_001177652.1:p.Val643Leu
NM_138361.5:c.2008G>C , LRG_373t1:c.2008G>C NP_612370.3:p.Val670Leu
XM_006717316.2:c.1909G>C XP_006717379.1:p.Val637Leu
XM_006717316.4:c.1909G>C XP_006717379.1:p.Val637Leu
XM_017015283.1:c.2008G>C XP_016870772.1:p.Val670Leu
XM_017015284.2:c.1219G>C XP_016870773.1:p.Val407Leu
XR_001746415.2:n.2543G>C
XR_929874.3:n.2367G>C
NM_001190723.3:c.1927G>C NP_001177652.1:p.Val643Leu
NM_001005373.4:c.2008G>C MANE Select NP_001005373.1:p.Val670Leu
NM_001005374.4:c.2008G>C NP_001005374.1:p.Val670Leu
NM_001384142.1:c.2008G>C NP_001371071.1:p.Val670Leu
NM_001384143.1:c.1909G>C NP_001371072.1:p.Val637Leu
NM_001384144.1:c.1219G>C NP_001371073.1:p.Val407Leu
NR_168891.1:n.2537G>C
NR_168892.1:n.2361G>C