Canonical Allele Identifier: CA374938280
Gene: LRSAM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127501097A>C , CM000671.2:g.127501097A>C GRCh38
NC_000009.11:g.130263376A>C , CM000671.1:g.130263376A>C GRCh37
NC_000009.10:g.129303197A>C NCBI36
NG_032008.1:g.54612A>C , LRG_373:g.54612A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300417.11:c.2000A>C MANE Select ENSP00000300417.6:p.Glu667Ala
ENST00000472068.2:c.*1724A>C ENSP00000501555.1:n.*1724A>C
ENST00000483302.6:n.2665A>C
ENST00000498513.6:c.*891A>C ENSP00000501637.1:n.*891A>C
ENST00000674511.1:n.1599A>C
ENST00000674516.1:c.*616A>C ENSP00000502441.1:n.*616A>C
ENST00000674621.1:n.1861-2276A>C
ENST00000674771.1:c.*643A>C ENSP00000502627.1:n.*643A>C
ENST00000674784.1:c.*1060A>C ENSP00000501837.1:n.*1060A>C
ENST00000674970.1:c.*1774A>C ENSP00000502493.1:n.*1774A>C
ENST00000675012.1:n.1944A>C
ENST00000675141.1:c.1901A>C ENSP00000502420.1:p.Glu634Ala
ENST00000675198.1:n.1880A>C
ENST00000675213.1:c.1955A>C ENSP00000502218.1:p.Glu652Ala
ENST00000675224.1:c.*66A>C ENSP00000501869.1:n.*66A>C
ENST00000675253.1:c.*672A>C ENSP00000502557.1:n.*672A>C
ENST00000675445.1:c.*1672A>C ENSP00000502253.1:n.*1672A>C
ENST00000675448.1:c.2000A>C ENSP00000502167.1:p.Glu667Ala
ENST00000675521.1:n.1910A>C
ENST00000675572.1:c.1901A>C ENSP00000501598.1:p.Glu634Ala
ENST00000675641.1:c.*742A>C ENSP00000501845.1:n.*742A>C
ENST00000675657.1:c.*613A>C ENSP00000502002.1:n.*613A>C
ENST00000675662.1:n.1795A>C
ENST00000675789.1:c.1820A>C ENSP00000501954.1:p.Glu607Ala
ENST00000675883.1:c.1919A>C ENSP00000501592.1:p.Glu640Ala
ENST00000675945.1:c.*641A>C ENSP00000501835.1:n.*641A>C
ENST00000676014.1:c.1943A>C ENSP00000502058.1:p.Glu648Ala
ENST00000676035.1:n.1662A>C
ENST00000676106.1:n.2037A>C
ENST00000676137.1:n.2030A>C
ENST00000676170.1:c.2081A>C ENSP00000502177.1:p.Glu694Ala
ENST00000676318.1:c.*2830A>C ENSP00000502300.1:n.*2830A>C
ENST00000676336.1:c.*613A>C ENSP00000502686.1:n.*613A>C
ENST00000676349.1:c.*1688A>C ENSP00000502155.1:n.*1688A>C
ENST00000676399.1:n.1903A>C
ENST00000676409.1:n.2060A>C
ENST00000300417.10:c.2000A>C ENSP00000300417.6:p.Glu667Ala
ENST00000323301.8:c.2000A>C ENSP00000322937.4:p.Glu667Ala
ENST00000373322.1:c.2000A>C ENSP00000362419.1:p.Glu667Ala
ENST00000373324.8:c.1919A>C ENSP00000362421.4:p.Glu640Ala
ENST00000483302.5:n.1222A>C
NM_001005373.3:c.2000A>C NP_001005373.1:p.Glu667Ala
NM_001005374.3:c.2000A>C NP_001005374.1:p.Glu667Ala
NM_001190723.2:c.1919A>C NP_001177652.1:p.Glu640Ala
NM_138361.5:c.2000A>C , LRG_373t1:c.2000A>C NP_612370.3:p.Glu667Ala
XM_006717316.2:c.1901A>C XP_006717379.1:p.Glu634Ala
XM_006717316.4:c.1901A>C XP_006717379.1:p.Glu634Ala
XM_017015283.1:c.2000A>C XP_016870772.1:p.Glu667Ala
XM_017015284.2:c.1211A>C XP_016870773.1:p.Glu404Ala
XR_001746415.2:n.2535A>C
XR_929874.3:n.2359A>C
NM_001190723.3:c.1919A>C NP_001177652.1:p.Glu640Ala
NM_001005373.4:c.2000A>C MANE Select NP_001005373.1:p.Glu667Ala
NM_001005374.4:c.2000A>C NP_001005374.1:p.Glu667Ala
NM_001384142.1:c.2000A>C NP_001371071.1:p.Glu667Ala
NM_001384143.1:c.1901A>C NP_001371072.1:p.Glu634Ala
NM_001384144.1:c.1211A>C NP_001371073.1:p.Glu404Ala
NR_168891.1:n.2529A>C
NR_168892.1:n.2353A>C