Canonical Allele Identifier: CA374938125

Gene: LRSAM1

Linked Data

• ClinVar Variation Id: 2875253
• ClinVar RCV Id: RCV003644511
• dbSNP Id: rs1836365918
• gnomAD v3: 9-127501015-A-G
• gnomAD v4: 9-127501015-A-G
• MyVariant Identifiers: chr9:g.130263294A>G (hg19) ; chr9:g.127501015A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501015A>G , CM000671.2:g.127501015A>G	GRCh38
NC_000009.11:g.130263294A>G , CM000671.1:g.130263294A>G	GRCh37
NC_000009.10:g.129303115A>G	NCBI36
NG_032008.1:g.54530A>G , LRG_373:g.54530A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.1918A>G MANE Select	ENSP00000300417.6:p.Lys640Glu
ENST00000472068.2:c.*1642A>G	ENSP00000501555.1:n.*1642A>G
ENST00000483302.6:n.2583A>G
ENST00000498513.6:c.*809A>G	ENSP00000501637.1:n.*809A>G
ENST00000674511.1:n.1517A>G
ENST00000674516.1:c.*534A>G	ENSP00000502441.1:n.*534A>G
ENST00000674621.1:n.1861-2358A>G
ENST00000674771.1:c.*561A>G	ENSP00000502627.1:n.*561A>G
ENST00000674784.1:c.*978A>G	ENSP00000501837.1:n.*978A>G
ENST00000674970.1:c.*1692A>G	ENSP00000502493.1:n.*1692A>G
ENST00000675012.1:n.1862A>G
ENST00000675141.1:c.1819A>G	ENSP00000502420.1:p.Lys607Glu
ENST00000675198.1:n.1798A>G
ENST00000675213.1:c.1873A>G	ENSP00000502218.1:p.Lys625Glu
ENST00000675224.1:c.1946A>G	ENSP00000501869.1:p.Glu649Gly
ENST00000675253.1:c.*590A>G	ENSP00000502557.1:n.*590A>G
ENST00000675445.1:c.*1590A>G	ENSP00000502253.1:n.*1590A>G
ENST00000675448.1:c.1918A>G	ENSP00000502167.1:p.Lys640Glu
ENST00000675521.1:n.1828A>G
ENST00000675572.1:c.1819A>G	ENSP00000501598.1:p.Lys607Glu
ENST00000675641.1:c.*660A>G	ENSP00000501845.1:n.*660A>G
ENST00000675657.1:c.*531A>G	ENSP00000502002.1:n.*531A>G
ENST00000675662.1:n.1713A>G
ENST00000675789.1:c.1738A>G	ENSP00000501954.1:p.Lys580Glu
ENST00000675883.1:c.1837A>G	ENSP00000501592.1:p.Lys613Glu
ENST00000675945.1:c.*559A>G	ENSP00000501835.1:n.*559A>G
ENST00000676014.1:c.1861A>G	ENSP00000502058.1:p.Lys621Glu
ENST00000676035.1:n.1580A>G
ENST00000676106.1:n.1955A>G
ENST00000676137.1:n.1948A>G
ENST00000676170.1:c.1999A>G	ENSP00000502177.1:p.Lys667Glu
ENST00000676318.1:c.*2748A>G	ENSP00000502300.1:n.*2748A>G
ENST00000676336.1:c.*531A>G	ENSP00000502686.1:n.*531A>G
ENST00000676349.1:c.*1606A>G	ENSP00000502155.1:n.*1606A>G
ENST00000676399.1:n.1821A>G
ENST00000676409.1:n.1978A>G
ENST00000300417.10:c.1918A>G	ENSP00000300417.6:p.Lys640Glu
ENST00000323301.8:c.1918A>G	ENSP00000322937.4:p.Lys640Glu
ENST00000373322.1:c.1918A>G	ENSP00000362419.1:p.Lys640Glu
ENST00000373324.8:c.1837A>G	ENSP00000362421.4:p.Lys613Glu
ENST00000472068.1:n.811A>G
ENST00000483302.5:n.1140A>G
NM_001005373.3:c.1918A>G	NP_001005373.1:p.Lys640Glu
NM_001005374.3:c.1918A>G	NP_001005374.1:p.Lys640Glu
NM_001190723.2:c.1837A>G	NP_001177652.1:p.Lys613Glu
NM_138361.5:c.1918A>G , LRG_373t1:c.1918A>G	NP_612370.3:p.Lys640Glu
XM_006717316.2:c.1819A>G	XP_006717379.1:p.Lys607Glu
XM_006717316.4:c.1819A>G	XP_006717379.1:p.Lys607Glu
XM_017015283.1:c.1918A>G	XP_016870772.1:p.Lys640Glu
XM_017015284.2:c.1129A>G	XP_016870773.1:p.Lys377Glu
XR_001746415.2:n.2453A>G
XR_929874.3:n.2277A>G
NM_001190723.3:c.1837A>G	NP_001177652.1:p.Lys613Glu
NM_001005373.4:c.1918A>G MANE Select	NP_001005373.1:p.Lys640Glu
NM_001005374.4:c.1918A>G	NP_001005374.1:p.Lys640Glu
NM_001384142.1:c.1918A>G	NP_001371071.1:p.Lys640Glu
NM_001384143.1:c.1819A>G	NP_001371072.1:p.Lys607Glu
NM_001384144.1:c.1129A>G	NP_001371073.1:p.Lys377Glu
NR_168891.1:n.2447A>G
NR_168892.1:n.2271A>G