Canonical Allele Identifier: CA5247220

Gene: LRSAM1

Linked Data

• ClinVar Variation Id: 1462331
• ClinVar RCV Id: RCV001968416
• dbSNP Id: rs148846371
• ExAC: 9:130263366 C / A
• gnomAD v2: 9-130263366-C-A
• gnomAD v4: 9-127501087-C-A
• MyVariant Identifiers: chr9:g.130263366C>A (hg19) ; chr9:g.127501087C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501087C>A , CM000671.2:g.127501087C>A	GRCh38
NC_000009.11:g.130263366C>A , CM000671.1:g.130263366C>A	GRCh37
NC_000009.10:g.129303187C>A	NCBI36
NG_032008.1:g.54602C>A , LRG_373:g.54602C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.1990C>A MANE Select	ENSP00000300417.6:p.Pro664Thr
ENST00000472068.2:c.*1714C>A	ENSP00000501555.1:n.*1714C>A
ENST00000483302.6:n.2655C>A
ENST00000498513.6:c.*881C>A	ENSP00000501637.1:n.*881C>A
ENST00000674511.1:n.1589C>A
ENST00000674516.1:c.*606C>A	ENSP00000502441.1:n.*606C>A
ENST00000674621.1:n.1861-2286C>A
ENST00000674771.1:c.*633C>A	ENSP00000502627.1:n.*633C>A
ENST00000674784.1:c.*1050C>A	ENSP00000501837.1:n.*1050C>A
ENST00000674970.1:c.*1764C>A	ENSP00000502493.1:n.*1764C>A
ENST00000675012.1:n.1934C>A
ENST00000675141.1:c.1891C>A	ENSP00000502420.1:p.Pro631Thr
ENST00000675198.1:n.1870C>A
ENST00000675213.1:c.1945C>A	ENSP00000502218.1:p.Pro649Thr
ENST00000675224.1:c.*56C>A	ENSP00000501869.1:n.*56C>A
ENST00000675253.1:c.*662C>A	ENSP00000502557.1:n.*662C>A
ENST00000675445.1:c.*1662C>A	ENSP00000502253.1:n.*1662C>A
ENST00000675448.1:c.1990C>A	ENSP00000502167.1:p.Pro664Thr
ENST00000675521.1:n.1900C>A
ENST00000675572.1:c.1891C>A	ENSP00000501598.1:p.Pro631Thr
ENST00000675641.1:c.*732C>A	ENSP00000501845.1:n.*732C>A
ENST00000675657.1:c.*603C>A	ENSP00000502002.1:n.*603C>A
ENST00000675662.1:n.1785C>A
ENST00000675789.1:c.1810C>A	ENSP00000501954.1:p.Pro604Thr
ENST00000675883.1:c.1909C>A	ENSP00000501592.1:p.Pro637Thr
ENST00000675945.1:c.*631C>A	ENSP00000501835.1:n.*631C>A
ENST00000676014.1:c.1933C>A	ENSP00000502058.1:p.Pro645Thr
ENST00000676035.1:n.1652C>A
ENST00000676106.1:n.2027C>A
ENST00000676137.1:n.2020C>A
ENST00000676170.1:c.2071C>A	ENSP00000502177.1:p.Pro691Thr
ENST00000676318.1:c.*2820C>A	ENSP00000502300.1:n.*2820C>A
ENST00000676336.1:c.*603C>A	ENSP00000502686.1:n.*603C>A
ENST00000676349.1:c.*1678C>A	ENSP00000502155.1:n.*1678C>A
ENST00000676399.1:n.1893C>A
ENST00000676409.1:n.2050C>A
ENST00000300417.10:c.1990C>A	ENSP00000300417.6:p.Pro664Thr
ENST00000323301.8:c.1990C>A	ENSP00000322937.4:p.Pro664Thr
ENST00000373322.1:c.1990C>A	ENSP00000362419.1:p.Pro664Thr
ENST00000373324.8:c.1909C>A	ENSP00000362421.4:p.Pro637Thr
ENST00000483302.5:n.1212C>A
NM_001005373.3:c.1990C>A	NP_001005373.1:p.Pro664Thr
NM_001005374.3:c.1990C>A	NP_001005374.1:p.Pro664Thr
NM_001190723.2:c.1909C>A	NP_001177652.1:p.Pro637Thr
NM_138361.5:c.1990C>A , LRG_373t1:c.1990C>A	NP_612370.3:p.Pro664Thr
XM_006717316.2:c.1891C>A	XP_006717379.1:p.Pro631Thr
XM_006717316.4:c.1891C>A	XP_006717379.1:p.Pro631Thr
XM_017015283.1:c.1990C>A	XP_016870772.1:p.Pro664Thr
XM_017015284.2:c.1201C>A	XP_016870773.1:p.Pro401Thr
XR_001746415.2:n.2525C>A
XR_929874.3:n.2349C>A
NM_001190723.3:c.1909C>A	NP_001177652.1:p.Pro637Thr
NM_001005373.4:c.1990C>A MANE Select	NP_001005373.1:p.Pro664Thr
NM_001005374.4:c.1990C>A	NP_001005374.1:p.Pro664Thr
NM_001384142.1:c.1990C>A	NP_001371071.1:p.Pro664Thr
NM_001384143.1:c.1891C>A	NP_001371072.1:p.Pro631Thr
NM_001384144.1:c.1201C>A	NP_001371073.1:p.Pro401Thr
NR_168891.1:n.2519C>A
NR_168892.1:n.2343C>A