Canonical Allele Identifier: CA5247225

Gene: LRSAM1

Linked Data

• dbSNP Id: rs772266627
• ExAC: 9:130263389 G / A
• gnomAD v2: 9-130263389-G-A
• gnomAD v4: 9-127501110-G-A
• MyVariant Identifiers: chr9:g.130263389G>A (hg19) ; chr9:g.127501110G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501110G>A , CM000671.2:g.127501110G>A	GRCh38
NC_000009.11:g.130263389G>A , CM000671.1:g.130263389G>A	GRCh37
NC_000009.10:g.129303210G>A	NCBI36
NG_032008.1:g.54625G>A , LRG_373:g.54625G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.2013G>A MANE Select	ENSP00000300417.6:p.Gln671=
ENST00000472068.2:c.*1737G>A	ENSP00000501555.1:n.*1737G>A
ENST00000483302.6:n.2678G>A
ENST00000498513.6:c.*904G>A	ENSP00000501637.1:n.*904G>A
ENST00000674511.1:n.1612G>A
ENST00000674516.1:c.*629G>A	ENSP00000502441.1:n.*629G>A
ENST00000674621.1:n.1861-2263G>A
ENST00000674771.1:c.*656G>A	ENSP00000502627.1:n.*656G>A
ENST00000674784.1:c.*1073G>A	ENSP00000501837.1:n.*1073G>A
ENST00000674970.1:c.*1787G>A	ENSP00000502493.1:n.*1787G>A
ENST00000675012.1:n.1957G>A
ENST00000675141.1:c.1914G>A	ENSP00000502420.1:p.Gln638=
ENST00000675198.1:n.1893G>A
ENST00000675213.1:c.1968G>A	ENSP00000502218.1:p.Gln656=
ENST00000675224.1:c.*79G>A	ENSP00000501869.1:n.*79G>A
ENST00000675253.1:c.*685G>A	ENSP00000502557.1:n.*685G>A
ENST00000675445.1:c.*1685G>A	ENSP00000502253.1:n.*1685G>A
ENST00000675448.1:c.2013G>A	ENSP00000502167.1:p.Gln671=
ENST00000675521.1:n.1923G>A
ENST00000675572.1:c.1914G>A	ENSP00000501598.1:p.Gln638=
ENST00000675641.1:c.*755G>A	ENSP00000501845.1:n.*755G>A
ENST00000675657.1:c.*626G>A	ENSP00000502002.1:n.*626G>A
ENST00000675662.1:n.1808G>A
ENST00000675789.1:c.1833G>A	ENSP00000501954.1:p.Gln611=
ENST00000675883.1:c.1932G>A	ENSP00000501592.1:p.Gln644=
ENST00000675945.1:c.*654G>A	ENSP00000501835.1:n.*654G>A
ENST00000676014.1:c.1956G>A	ENSP00000502058.1:p.Gln652=
ENST00000676035.1:n.1675G>A
ENST00000676106.1:n.2050G>A
ENST00000676137.1:n.2043G>A
ENST00000676170.1:c.2094G>A	ENSP00000502177.1:p.Gln698=
ENST00000676318.1:c.*2843G>A	ENSP00000502300.1:n.*2843G>A
ENST00000676336.1:c.*626G>A	ENSP00000502686.1:n.*626G>A
ENST00000676349.1:c.*1701G>A	ENSP00000502155.1:n.*1701G>A
ENST00000676399.1:n.1916G>A
ENST00000676409.1:n.2073G>A
ENST00000300417.10:c.2013G>A	ENSP00000300417.6:p.Gln671=
ENST00000323301.8:c.2013G>A	ENSP00000322937.4:p.Gln671=
ENST00000373322.1:c.2013G>A	ENSP00000362419.1:p.Gln671=
ENST00000373324.8:c.1932G>A	ENSP00000362421.4:p.Gln644=
ENST00000483302.5:n.1235G>A
NM_001005373.3:c.2013G>A	NP_001005373.1:p.Gln671=
NM_001005374.3:c.2013G>A	NP_001005374.1:p.Gln671=
NM_001190723.2:c.1932G>A	NP_001177652.1:p.Gln644=
NM_138361.5:c.2013G>A , LRG_373t1:c.2013G>A	NP_612370.3:p.Gln671=
XM_006717316.2:c.1914G>A	XP_006717379.1:p.Gln638=
XM_006717316.4:c.1914G>A	XP_006717379.1:p.Gln638=
XM_017015283.1:c.2013G>A	XP_016870772.1:p.Gln671=
XM_017015284.2:c.1224G>A	XP_016870773.1:p.Gln408=
XR_001746415.2:n.2548G>A
XR_929874.3:n.2372G>A
NM_001190723.3:c.1932G>A	NP_001177652.1:p.Gln644=
NM_001005373.4:c.2013G>A MANE Select	NP_001005373.1:p.Gln671=
NM_001005374.4:c.2013G>A	NP_001005374.1:p.Gln671=
NM_001384142.1:c.2013G>A	NP_001371071.1:p.Gln671=
NM_001384143.1:c.1914G>A	NP_001371072.1:p.Gln638=
NM_001384144.1:c.1224G>A	NP_001371073.1:p.Gln408=
NR_168891.1:n.2542G>A
NR_168892.1:n.2366G>A