Canonical Allele Identifier: CA374938293
Gene: LRSAM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127501103A>C , CM000671.2:g.127501103A>C GRCh38
NC_000009.11:g.130263382A>C , CM000671.1:g.130263382A>C GRCh37
NC_000009.10:g.129303203A>C NCBI36
NG_032008.1:g.54618A>C , LRG_373:g.54618A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300417.11:c.2006A>C MANE Select ENSP00000300417.6:p.Glu669Ala
ENST00000472068.2:c.*1730A>C ENSP00000501555.1:n.*1730A>C
ENST00000483302.6:n.2671A>C
ENST00000498513.6:c.*897A>C ENSP00000501637.1:n.*897A>C
ENST00000674511.1:n.1605A>C
ENST00000674516.1:c.*622A>C ENSP00000502441.1:n.*622A>C
ENST00000674621.1:n.1861-2270A>C
ENST00000674771.1:c.*649A>C ENSP00000502627.1:n.*649A>C
ENST00000674784.1:c.*1066A>C ENSP00000501837.1:n.*1066A>C
ENST00000674970.1:c.*1780A>C ENSP00000502493.1:n.*1780A>C
ENST00000675012.1:n.1950A>C
ENST00000675141.1:c.1907A>C ENSP00000502420.1:p.Glu636Ala
ENST00000675198.1:n.1886A>C
ENST00000675213.1:c.1961A>C ENSP00000502218.1:p.Glu654Ala
ENST00000675224.1:c.*72A>C ENSP00000501869.1:n.*72A>C
ENST00000675253.1:c.*678A>C ENSP00000502557.1:n.*678A>C
ENST00000675445.1:c.*1678A>C ENSP00000502253.1:n.*1678A>C
ENST00000675448.1:c.2006A>C ENSP00000502167.1:p.Glu669Ala
ENST00000675521.1:n.1916A>C
ENST00000675572.1:c.1907A>C ENSP00000501598.1:p.Glu636Ala
ENST00000675641.1:c.*748A>C ENSP00000501845.1:n.*748A>C
ENST00000675657.1:c.*619A>C ENSP00000502002.1:n.*619A>C
ENST00000675662.1:n.1801A>C
ENST00000675789.1:c.1826A>C ENSP00000501954.1:p.Glu609Ala
ENST00000675883.1:c.1925A>C ENSP00000501592.1:p.Glu642Ala
ENST00000675945.1:c.*647A>C ENSP00000501835.1:n.*647A>C
ENST00000676014.1:c.1949A>C ENSP00000502058.1:p.Glu650Ala
ENST00000676035.1:n.1668A>C
ENST00000676106.1:n.2043A>C
ENST00000676137.1:n.2036A>C
ENST00000676170.1:c.2087A>C ENSP00000502177.1:p.Glu696Ala
ENST00000676318.1:c.*2836A>C ENSP00000502300.1:n.*2836A>C
ENST00000676336.1:c.*619A>C ENSP00000502686.1:n.*619A>C
ENST00000676349.1:c.*1694A>C ENSP00000502155.1:n.*1694A>C
ENST00000676399.1:n.1909A>C
ENST00000676409.1:n.2066A>C
ENST00000300417.10:c.2006A>C ENSP00000300417.6:p.Glu669Ala
ENST00000323301.8:c.2006A>C ENSP00000322937.4:p.Glu669Ala
ENST00000373322.1:c.2006A>C ENSP00000362419.1:p.Glu669Ala
ENST00000373324.8:c.1925A>C ENSP00000362421.4:p.Glu642Ala
ENST00000483302.5:n.1228A>C
NM_001005373.3:c.2006A>C NP_001005373.1:p.Glu669Ala
NM_001005374.3:c.2006A>C NP_001005374.1:p.Glu669Ala
NM_001190723.2:c.1925A>C NP_001177652.1:p.Glu642Ala
NM_138361.5:c.2006A>C , LRG_373t1:c.2006A>C NP_612370.3:p.Glu669Ala
XM_006717316.2:c.1907A>C XP_006717379.1:p.Glu636Ala
XM_006717316.4:c.1907A>C XP_006717379.1:p.Glu636Ala
XM_017015283.1:c.2006A>C XP_016870772.1:p.Glu669Ala
XM_017015284.2:c.1217A>C XP_016870773.1:p.Glu406Ala
XR_001746415.2:n.2541A>C
XR_929874.3:n.2365A>C
NM_001190723.3:c.1925A>C NP_001177652.1:p.Glu642Ala
NM_001005373.4:c.2006A>C MANE Select NP_001005373.1:p.Glu669Ala
NM_001005374.4:c.2006A>C NP_001005374.1:p.Glu669Ala
NM_001384142.1:c.2006A>C NP_001371071.1:p.Glu669Ala
NM_001384143.1:c.1907A>C NP_001371072.1:p.Glu636Ala
NM_001384144.1:c.1217A>C NP_001371073.1:p.Glu406Ala
NR_168891.1:n.2535A>C
NR_168892.1:n.2359A>C