Canonical Allele Identifier: CA374938779
Community Standard Title: NM_001005373.4(LRSAM1):c.2092C>T (p.Gln698Ter)
Gene: LRSAM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127502819C>T , CM000671.2:g.127502819C>T GRCh38
NC_000009.11:g.130265098C>T , CM000671.1:g.130265098C>T GRCh37
NC_000009.10:g.129304919C>T NCBI36
NG_032008.1:g.56334C>T , LRG_373:g.56334C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001005373.4:c.2092C>T MANE Select NP_001005373.1:p.Gln698Ter
ENST00000300417.11:c.2092C>T MANE Select ENSP00000300417.6:p.Gln698Ter
NM_001005373.3:c.2092C>T NP_001005373.1:p.Gln698Ter
NM_001005374.3:c.2092C>T NP_001005374.1:p.Gln698Ter
NM_001005374.4:c.2092C>T NP_001005374.1:p.Gln698Ter
NM_001190723.2:c.2011C>T NP_001177652.1:p.Gln671Ter
NM_001190723.3:c.2011C>T NP_001177652.1:p.Gln671Ter
NM_001384142.1:c.2092C>T NP_001371071.1:p.Gln698Ter
NM_001384143.1:c.1993C>T NP_001371072.1:p.Gln665Ter
NM_001384144.1:c.1303C>T NP_001371073.1:p.Gln435Ter
NM_138361.5:c.2092C>T , LRG_373t1:c.2092C>T NP_612370.3:p.Gln698Ter
NR_168891.1:n.2621C>T
NR_168892.1:n.2445C>T
ENST00000300417.10:c.2092C>T ENSP00000300417.6:p.Gln698Ter
ENST00000323301.8:c.2092C>T ENSP00000322937.4:p.Gln698Ter
ENST00000373322.1:c.2092C>T ENSP00000362419.1:p.Gln698Ter
ENST00000373324.8:c.2011C>T ENSP00000362421.4:p.Gln671Ter
ENST00000483302.5:n.1314C>T
ENST00000483302.6:n.2757C>T
ENST00000498513.6:c.*983C>T ENSP00000501637.1:n.*983C>T
ENST00000674511.1:n.1691C>T
ENST00000674516.1:c.*708C>T ENSP00000502441.1:n.*708C>T
ENST00000674621.1:n.1861-554C>T
ENST00000674771.1:c.*735C>T ENSP00000502627.1:n.*735C>T
ENST00000674784.1:c.*1152C>T ENSP00000501837.1:n.*1152C>T
ENST00000674970.1:c.*1866C>T ENSP00000502493.1:n.*1866C>T
ENST00000675012.1:n.2036C>T
ENST00000675141.1:c.1993C>T ENSP00000502420.1:p.Gln665Ter
ENST00000675198.1:n.1972C>T
ENST00000675213.1:c.2047C>T ENSP00000502218.1:p.Gln683Ter
ENST00000675224.1:c.*158C>T ENSP00000501869.1:n.*158C>T
ENST00000675253.1:c.*764C>T ENSP00000502557.1:n.*764C>T
ENST00000675445.1:c.*1764C>T ENSP00000502253.1:n.*1764C>T
ENST00000675448.1:c.2092C>T ENSP00000502167.1:p.Gln698Ter
ENST00000675521.1:n.2002C>T
ENST00000675572.1:c.1993C>T ENSP00000501598.1:p.Gln665Ter
ENST00000675641.1:c.*834C>T ENSP00000501845.1:n.*834C>T
ENST00000675657.1:c.*705C>T ENSP00000502002.1:n.*705C>T
ENST00000675662.1:n.1887C>T
ENST00000675789.1:c.1912C>T ENSP00000501954.1:p.Gln638Ter
ENST00000675883.1:c.2011C>T ENSP00000501592.1:p.Gln671Ter
ENST00000675945.1:c.*733C>T ENSP00000501835.1:n.*733C>T
ENST00000676014.1:c.2035C>T ENSP00000502058.1:p.Gln679Ter
ENST00000676035.1:n.1754C>T
ENST00000676106.1:n.2129C>T
ENST00000676137.1:n.2122C>T
ENST00000676170.1:c.2173C>T ENSP00000502177.1:p.Gln725Ter
ENST00000676318.1:c.*2922C>T ENSP00000502300.1:n.*2922C>T
ENST00000676336.1:c.*705C>T ENSP00000502686.1:n.*705C>T
ENST00000676349.1:c.*1780C>T ENSP00000502155.1:n.*1780C>T
ENST00000676399.1:n.1995C>T
ENST00000676409.1:n.2152C>T
XM_006717316.2:c.1993C>T XP_006717379.1:p.Gln665Ter
XM_006717316.4:c.1993C>T XP_006717379.1:p.Gln665Ter
XM_017015283.1:c.2092C>T XP_016870772.1:p.Gln698Ter
XM_017015284.2:c.1303C>T XP_016870773.1:p.Gln435Ter
XR_001746415.2:n.2627C>T
XR_929874.3:n.2451C>T