Canonical Allele Identifier: CA5247217

Gene: LRSAM1

Linked Data

• ClinVar Variation Id: 246184
• ClinVar RCV Id: RCV000236448 ; RCV000545143 ; RCV003430799
• dbSNP Id: rs140786088
• ExAC: 9:130263351 G / A
• gnomAD v2: 9-130263351-G-A
• gnomAD v3: 9-127501072-G-A
• gnomAD v4: 9-127501072-G-A
• MyVariant Identifiers: chr9:g.130263351G>A (hg19) ; chr9:g.127501072G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501072G>A , CM000671.2:g.127501072G>A	GRCh38
NC_000009.11:g.130263351G>A , CM000671.1:g.130263351G>A	GRCh37
NC_000009.10:g.129303172G>A	NCBI36
NG_032008.1:g.54587G>A , LRG_373:g.54587G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.1975G>A MANE Select	ENSP00000300417.6:p.Val659Met
ENST00000472068.2:c.*1699G>A	ENSP00000501555.1:n.*1699G>A
ENST00000483302.6:n.2640G>A
ENST00000498513.6:c.*866G>A	ENSP00000501637.1:n.*866G>A
ENST00000674511.1:n.1574G>A
ENST00000674516.1:c.*591G>A	ENSP00000502441.1:n.*591G>A
ENST00000674621.1:n.1861-2301G>A
ENST00000674771.1:c.*618G>A	ENSP00000502627.1:n.*618G>A
ENST00000674784.1:c.*1035G>A	ENSP00000501837.1:n.*1035G>A
ENST00000674970.1:c.*1749G>A	ENSP00000502493.1:n.*1749G>A
ENST00000675012.1:n.1919G>A
ENST00000675141.1:c.1876G>A	ENSP00000502420.1:p.Val626Met
ENST00000675198.1:n.1855G>A
ENST00000675213.1:c.1930G>A	ENSP00000502218.1:p.Val644Met
ENST00000675224.1:c.*41G>A	ENSP00000501869.1:n.*41G>A
ENST00000675253.1:c.*647G>A	ENSP00000502557.1:n.*647G>A
ENST00000675445.1:c.*1647G>A	ENSP00000502253.1:n.*1647G>A
ENST00000675448.1:c.1975G>A	ENSP00000502167.1:p.Val659Met
ENST00000675521.1:n.1885G>A
ENST00000675572.1:c.1876G>A	ENSP00000501598.1:p.Val626Met
ENST00000675641.1:c.*717G>A	ENSP00000501845.1:n.*717G>A
ENST00000675657.1:c.*588G>A	ENSP00000502002.1:n.*588G>A
ENST00000675662.1:n.1770G>A
ENST00000675789.1:c.1795G>A	ENSP00000501954.1:p.Val599Met
ENST00000675883.1:c.1894G>A	ENSP00000501592.1:p.Val632Met
ENST00000675945.1:c.*616G>A	ENSP00000501835.1:n.*616G>A
ENST00000676014.1:c.1918G>A	ENSP00000502058.1:p.Val640Met
ENST00000676035.1:n.1637G>A
ENST00000676106.1:n.2012G>A
ENST00000676137.1:n.2005G>A
ENST00000676170.1:c.2056G>A	ENSP00000502177.1:p.Val686Met
ENST00000676318.1:c.*2805G>A	ENSP00000502300.1:n.*2805G>A
ENST00000676336.1:c.*588G>A	ENSP00000502686.1:n.*588G>A
ENST00000676349.1:c.*1663G>A	ENSP00000502155.1:n.*1663G>A
ENST00000676399.1:n.1878G>A
ENST00000676409.1:n.2035G>A
ENST00000300417.10:c.1975G>A	ENSP00000300417.6:p.Val659Met
ENST00000323301.8:c.1975G>A	ENSP00000322937.4:p.Val659Met
ENST00000373322.1:c.1975G>A	ENSP00000362419.1:p.Val659Met
ENST00000373324.8:c.1894G>A	ENSP00000362421.4:p.Val632Met
ENST00000483302.5:n.1197G>A
NM_001005373.3:c.1975G>A	NP_001005373.1:p.Val659Met
NM_001005374.3:c.1975G>A	NP_001005374.1:p.Val659Met
NM_001190723.2:c.1894G>A	NP_001177652.1:p.Val632Met
NM_138361.5:c.1975G>A , LRG_373t1:c.1975G>A	NP_612370.3:p.Val659Met
XM_006717316.2:c.1876G>A	XP_006717379.1:p.Val626Met
XM_006717316.4:c.1876G>A	XP_006717379.1:p.Val626Met
XM_017015283.1:c.1975G>A	XP_016870772.1:p.Val659Met
XM_017015284.2:c.1186G>A	XP_016870773.1:p.Val396Met
XR_001746415.2:n.2510G>A
XR_929874.3:n.2334G>A
NM_001190723.3:c.1894G>A	NP_001177652.1:p.Val632Met
NM_001005373.4:c.1975G>A MANE Select	NP_001005373.1:p.Val659Met
NM_001005374.4:c.1975G>A	NP_001005374.1:p.Val659Met
NM_001384142.1:c.1975G>A	NP_001371071.1:p.Val659Met
NM_001384143.1:c.1876G>A	NP_001371072.1:p.Val626Met
NM_001384144.1:c.1186G>A	NP_001371073.1:p.Val396Met
NR_168891.1:n.2504G>A
NR_168892.1:n.2328G>A