Canonical Allele Identifier: CA5247209

Gene: LRSAM1

Linked Data

• ClinVar Variation Id: 365034
• ClinVar RCV Id: RCV001672716 ; RCV002418220 ; RCV000649937
• dbSNP Id: rs199887448
• ExAC: 9:130263326 G / A
• gnomAD v2: 9-130263326-G-A
• gnomAD v3: 9-127501047-G-A
• gnomAD v4: 9-127501047-G-A
• MyVariant Identifiers: chr9:g.130263326G>A (hg19) ; chr9:g.127501047G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501047G>A , CM000671.2:g.127501047G>A	GRCh38
NC_000009.11:g.130263326G>A , CM000671.1:g.130263326G>A	GRCh37
NC_000009.10:g.129303147G>A	NCBI36
NG_032008.1:g.54562G>A , LRG_373:g.54562G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.1950G>A MANE Select	ENSP00000300417.6:p.Thr650=
ENST00000472068.2:c.*1674G>A	ENSP00000501555.1:n.*1674G>A
ENST00000483302.6:n.2615G>A
ENST00000498513.6:c.*841G>A	ENSP00000501637.1:n.*841G>A
ENST00000674511.1:n.1549G>A
ENST00000674516.1:c.*566G>A	ENSP00000502441.1:n.*566G>A
ENST00000674621.1:n.1861-2326G>A
ENST00000674771.1:c.*593G>A	ENSP00000502627.1:n.*593G>A
ENST00000674784.1:c.*1010G>A	ENSP00000501837.1:n.*1010G>A
ENST00000674970.1:c.*1724G>A	ENSP00000502493.1:n.*1724G>A
ENST00000675012.1:n.1894G>A
ENST00000675141.1:c.1851G>A	ENSP00000502420.1:p.Thr617=
ENST00000675198.1:n.1830G>A
ENST00000675213.1:c.1905G>A	ENSP00000502218.1:p.Thr635=
ENST00000675224.1:c.*16G>A	ENSP00000501869.1:n.*16G>A
ENST00000675253.1:c.*622G>A	ENSP00000502557.1:n.*622G>A
ENST00000675445.1:c.*1622G>A	ENSP00000502253.1:n.*1622G>A
ENST00000675448.1:c.1950G>A	ENSP00000502167.1:p.Thr650=
ENST00000675521.1:n.1860G>A
ENST00000675572.1:c.1851G>A	ENSP00000501598.1:p.Thr617=
ENST00000675641.1:c.*692G>A	ENSP00000501845.1:n.*692G>A
ENST00000675657.1:c.*563G>A	ENSP00000502002.1:n.*563G>A
ENST00000675662.1:n.1745G>A
ENST00000675789.1:c.1770G>A	ENSP00000501954.1:p.Thr590=
ENST00000675883.1:c.1869G>A	ENSP00000501592.1:p.Thr623=
ENST00000675945.1:c.*591G>A	ENSP00000501835.1:n.*591G>A
ENST00000676014.1:c.1893G>A	ENSP00000502058.1:p.Thr631=
ENST00000676035.1:n.1612G>A
ENST00000676106.1:n.1987G>A
ENST00000676137.1:n.1980G>A
ENST00000676170.1:c.2031G>A	ENSP00000502177.1:p.Thr677=
ENST00000676318.1:c.*2780G>A	ENSP00000502300.1:n.*2780G>A
ENST00000676336.1:c.*563G>A	ENSP00000502686.1:n.*563G>A
ENST00000676349.1:c.*1638G>A	ENSP00000502155.1:n.*1638G>A
ENST00000676399.1:n.1853G>A
ENST00000676409.1:n.2010G>A
ENST00000300417.10:c.1950G>A	ENSP00000300417.6:p.Thr650=
ENST00000323301.8:c.1950G>A	ENSP00000322937.4:p.Thr650=
ENST00000373322.1:c.1950G>A	ENSP00000362419.1:p.Thr650=
ENST00000373324.8:c.1869G>A	ENSP00000362421.4:p.Thr623=
ENST00000472068.1:n.843G>A
ENST00000483302.5:n.1172G>A
NM_001005373.3:c.1950G>A	NP_001005373.1:p.Thr650=
NM_001005374.3:c.1950G>A	NP_001005374.1:p.Thr650=
NM_001190723.2:c.1869G>A	NP_001177652.1:p.Thr623=
NM_138361.5:c.1950G>A , LRG_373t1:c.1950G>A	NP_612370.3:p.Thr650=
XM_006717316.2:c.1851G>A	XP_006717379.1:p.Thr617=
XM_006717316.4:c.1851G>A	XP_006717379.1:p.Thr617=
XM_017015283.1:c.1950G>A	XP_016870772.1:p.Thr650=
XM_017015284.2:c.1161G>A	XP_016870773.1:p.Thr387=
XR_001746415.2:n.2485G>A
XR_929874.3:n.2309G>A
NM_001190723.3:c.1869G>A	NP_001177652.1:p.Thr623=
NM_001005373.4:c.1950G>A MANE Select	NP_001005373.1:p.Thr650=
NM_001005374.4:c.1950G>A	NP_001005374.1:p.Thr650=
NM_001384142.1:c.1950G>A	NP_001371071.1:p.Thr650=
NM_001384143.1:c.1851G>A	NP_001371072.1:p.Thr617=
NM_001384144.1:c.1161G>A	NP_001371073.1:p.Thr387=
NR_168891.1:n.2479G>A
NR_168892.1:n.2303G>A