Canonical Allele Identifier: CA467234238
Community Standard Title: NM_001005373.4(LRSAM1):c.1698A>G (p.Gln566=)
Gene: LRSAM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127495418A>G , CM000671.2:g.127495418A>G GRCh38
NC_000009.11:g.130257697A>G , CM000671.1:g.130257697A>G GRCh37
NC_000009.10:g.129297518A>G NCBI36
NG_032008.1:g.48933A>G , LRG_373:g.48933A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001005373.4:c.1698A>G MANE Select NP_001005373.1:p.Gln566=
ENST00000300417.11:c.1698A>G MANE Select ENSP00000300417.6:p.Gln566=
NM_001005373.3:c.1698A>G NP_001005373.1:p.Gln566=
NM_001005374.3:c.1698A>G NP_001005374.1:p.Gln566=
NM_001005374.4:c.1698A>G NP_001005374.1:p.Gln566=
NM_001190723.2:c.1617A>G NP_001177652.1:p.Gln539=
NM_001190723.3:c.1617A>G NP_001177652.1:p.Gln539=
NM_001384142.1:c.1698A>G NP_001371071.1:p.Gln566=
NM_001384143.1:c.1600-546A>G NP_001371072.1:n.1600-546A>G
NM_001384144.1:c.909A>G NP_001371073.1:p.Gln303=
NM_138361.5:c.1698A>G , LRG_373t1:c.1698A>G NP_612370.3:p.Gln566=
NR_168891.1:n.2227A>G
NR_168892.1:n.2051A>G
ENST00000300417.10:c.1698A>G ENSP00000300417.6:p.Gln566=
ENST00000323301.8:c.1698A>G ENSP00000322937.4:p.Gln566=
ENST00000373322.1:c.1698A>G ENSP00000362419.1:p.Gln566=
ENST00000373324.8:c.1617A>G ENSP00000362421.4:p.Gln539=
ENST00000472068.1:n.592-546A>G
ENST00000472068.2:c.*1422+4A>G ENSP00000501555.1:n.*1422+4A>G
ENST00000483302.5:n.920A>G
ENST00000483302.6:n.2363A>G
ENST00000498513.6:c.*589A>G ENSP00000501637.1:n.*589A>G
ENST00000674511.1:n.1298-546A>G
ENST00000674516.1:c.1698A>G ENSP00000502441.1:p.Gln566=
ENST00000674621.1:n.1748A>G
ENST00000674771.1:c.*342-546A>G ENSP00000502627.1:n.*342-546A>G
ENST00000674784.1:c.*759-546A>G ENSP00000501837.1:n.*759-546A>G
ENST00000674970.1:c.*1472A>G ENSP00000502493.1:n.*1472A>G
ENST00000675012.1:n.1642A>G
ENST00000675141.1:c.1600-546A>G ENSP00000502420.1:n.1600-546A>G
ENST00000675198.1:n.1578A>G
ENST00000675213.1:c.1653A>G ENSP00000502218.1:p.Gln551=
ENST00000675224.1:c.1698A>G ENSP00000501869.1:p.Gln566=
ENST00000675253.1:c.*371-546A>G ENSP00000502557.1:n.*371-546A>G
ENST00000675445.1:c.*1370A>G ENSP00000502253.1:n.*1370A>G
ENST00000675448.1:c.1698A>G ENSP00000502167.1:p.Gln566=
ENST00000675521.1:n.1608A>G
ENST00000675572.1:c.1600-546A>G ENSP00000501598.1:n.1600-546A>G
ENST00000675641.1:c.*440A>G ENSP00000501845.1:n.*440A>G
ENST00000675657.1:c.*311A>G ENSP00000502002.1:n.*311A>G
ENST00000675662.1:n.1493A>G
ENST00000675789.1:c.1519-546A>G ENSP00000501954.1:n.1519-546A>G
ENST00000675883.1:c.1617A>G ENSP00000501592.1:p.Gln539=
ENST00000675945.1:c.*422-546A>G ENSP00000501835.1:n.*422-546A>G
ENST00000676014.1:c.1641A>G ENSP00000502058.1:p.Gln547=
ENST00000676035.1:n.1361-546A>G
ENST00000676106.1:n.1736-546A>G
ENST00000676137.1:n.1728A>G
ENST00000676170.1:c.1779A>G ENSP00000502177.1:p.Gln593=
ENST00000676318.1:c.*2528A>G ENSP00000502300.1:n.*2528A>G
ENST00000676336.1:c.*311A>G ENSP00000502686.1:n.*311A>G
ENST00000676349.1:c.*1386A>G ENSP00000502155.1:n.*1386A>G
ENST00000676399.1:n.1601A>G
ENST00000676409.1:n.1758A>G
XM_006717316.2:c.1600-546A>G XP_006717379.1:n.1600-546A>G
XM_006717316.4:c.1600-546A>G XP_006717379.1:n.1600-546A>G
XM_017015283.1:c.1698A>G XP_016870772.1:p.Gln566=
XM_017015284.2:c.909A>G XP_016870773.1:p.Gln303=
XR_001746415.2:n.2233A>G
XR_929874.3:n.2057A>G