Canonical Allele Identifier: CA374938322
Gene: LRSAM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127501117G>T , CM000671.2:g.127501117G>T GRCh38
NC_000009.11:g.130263396G>T , CM000671.1:g.130263396G>T GRCh37
NC_000009.10:g.129303217G>T NCBI36
NG_032008.1:g.54632G>T , LRG_373:g.54632G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300417.11:c.2020G>T MANE Select ENSP00000300417.6:p.Glu674Ter
ENST00000472068.2:c.*1744G>T ENSP00000501555.1:n.*1744G>T
ENST00000483302.6:n.2685G>T
ENST00000498513.6:c.*911G>T ENSP00000501637.1:n.*911G>T
ENST00000674511.1:n.1619G>T
ENST00000674516.1:c.*636G>T ENSP00000502441.1:n.*636G>T
ENST00000674621.1:n.1861-2256G>T
ENST00000674771.1:c.*663G>T ENSP00000502627.1:n.*663G>T
ENST00000674784.1:c.*1080G>T ENSP00000501837.1:n.*1080G>T
ENST00000674970.1:c.*1794G>T ENSP00000502493.1:n.*1794G>T
ENST00000675012.1:n.1964G>T
ENST00000675141.1:c.1921G>T ENSP00000502420.1:p.Glu641Ter
ENST00000675198.1:n.1900G>T
ENST00000675213.1:c.1975G>T ENSP00000502218.1:p.Glu659Ter
ENST00000675224.1:c.*86G>T ENSP00000501869.1:n.*86G>T
ENST00000675253.1:c.*692G>T ENSP00000502557.1:n.*692G>T
ENST00000675445.1:c.*1692G>T ENSP00000502253.1:n.*1692G>T
ENST00000675448.1:c.2020G>T ENSP00000502167.1:p.Glu674Ter
ENST00000675521.1:n.1930G>T
ENST00000675572.1:c.1921G>T ENSP00000501598.1:p.Glu641Ter
ENST00000675641.1:c.*762G>T ENSP00000501845.1:n.*762G>T
ENST00000675657.1:c.*633G>T ENSP00000502002.1:n.*633G>T
ENST00000675662.1:n.1815G>T
ENST00000675789.1:c.1840G>T ENSP00000501954.1:p.Glu614Ter
ENST00000675883.1:c.1939G>T ENSP00000501592.1:p.Glu647Ter
ENST00000675945.1:c.*661G>T ENSP00000501835.1:n.*661G>T
ENST00000676014.1:c.1963G>T ENSP00000502058.1:p.Glu655Ter
ENST00000676035.1:n.1682G>T
ENST00000676106.1:n.2057G>T
ENST00000676137.1:n.2050G>T
ENST00000676170.1:c.2101G>T ENSP00000502177.1:p.Glu701Ter
ENST00000676318.1:c.*2850G>T ENSP00000502300.1:n.*2850G>T
ENST00000676336.1:c.*633G>T ENSP00000502686.1:n.*633G>T
ENST00000676349.1:c.*1708G>T ENSP00000502155.1:n.*1708G>T
ENST00000676399.1:n.1923G>T
ENST00000676409.1:n.2080G>T
ENST00000300417.10:c.2020G>T ENSP00000300417.6:p.Glu674Ter
ENST00000323301.8:c.2020G>T ENSP00000322937.4:p.Glu674Ter
ENST00000373322.1:c.2020G>T ENSP00000362419.1:p.Glu674Ter
ENST00000373324.8:c.1939G>T ENSP00000362421.4:p.Glu647Ter
ENST00000483302.5:n.1242G>T
NM_001005373.3:c.2020G>T NP_001005373.1:p.Glu674Ter
NM_001005374.3:c.2020G>T NP_001005374.1:p.Glu674Ter
NM_001190723.2:c.1939G>T NP_001177652.1:p.Glu647Ter
NM_138361.5:c.2020G>T , LRG_373t1:c.2020G>T NP_612370.3:p.Glu674Ter
XM_006717316.2:c.1921G>T XP_006717379.1:p.Glu641Ter
XM_006717316.4:c.1921G>T XP_006717379.1:p.Glu641Ter
XM_017015283.1:c.2020G>T XP_016870772.1:p.Glu674Ter
XM_017015284.2:c.1231G>T XP_016870773.1:p.Glu411Ter
XR_001746415.2:n.2555G>T
XR_929874.3:n.2379G>T
NM_001190723.3:c.1939G>T NP_001177652.1:p.Glu647Ter
NM_001005373.4:c.2020G>T MANE Select NP_001005373.1:p.Glu674Ter
NM_001005374.4:c.2020G>T NP_001005374.1:p.Glu674Ter
NM_001384142.1:c.2020G>T NP_001371071.1:p.Glu674Ter
NM_001384143.1:c.1921G>T NP_001371072.1:p.Glu641Ter
NM_001384144.1:c.1231G>T NP_001371073.1:p.Glu411Ter
NR_168891.1:n.2549G>T
NR_168892.1:n.2373G>T