Canonical Allele Identifier: CA374938289

Gene: LRSAM1

Linked Data

• gnomAD v4: 9-127501100-T-G
• MyVariant Identifiers: chr9:g.130263379T>G (hg19) ; chr9:g.127501100T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501100T>G , CM000671.2:g.127501100T>G	GRCh38
NC_000009.11:g.130263379T>G , CM000671.1:g.130263379T>G	GRCh37
NC_000009.10:g.129303200T>G	NCBI36
NG_032008.1:g.54615T>G , LRG_373:g.54615T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.2003T>G MANE Select	ENSP00000300417.6:p.Leu668Arg
ENST00000472068.2:c.*1727T>G	ENSP00000501555.1:n.*1727T>G
ENST00000483302.6:n.2668T>G
ENST00000498513.6:c.*894T>G	ENSP00000501637.1:n.*894T>G
ENST00000674511.1:n.1602T>G
ENST00000674516.1:c.*619T>G	ENSP00000502441.1:n.*619T>G
ENST00000674621.1:n.1861-2273T>G
ENST00000674771.1:c.*646T>G	ENSP00000502627.1:n.*646T>G
ENST00000674784.1:c.*1063T>G	ENSP00000501837.1:n.*1063T>G
ENST00000674970.1:c.*1777T>G	ENSP00000502493.1:n.*1777T>G
ENST00000675012.1:n.1947T>G
ENST00000675141.1:c.1904T>G	ENSP00000502420.1:p.Leu635Arg
ENST00000675198.1:n.1883T>G
ENST00000675213.1:c.1958T>G	ENSP00000502218.1:p.Leu653Arg
ENST00000675224.1:c.*69T>G	ENSP00000501869.1:n.*69T>G
ENST00000675253.1:c.*675T>G	ENSP00000502557.1:n.*675T>G
ENST00000675445.1:c.*1675T>G	ENSP00000502253.1:n.*1675T>G
ENST00000675448.1:c.2003T>G	ENSP00000502167.1:p.Leu668Arg
ENST00000675521.1:n.1913T>G
ENST00000675572.1:c.1904T>G	ENSP00000501598.1:p.Leu635Arg
ENST00000675641.1:c.*745T>G	ENSP00000501845.1:n.*745T>G
ENST00000675657.1:c.*616T>G	ENSP00000502002.1:n.*616T>G
ENST00000675662.1:n.1798T>G
ENST00000675789.1:c.1823T>G	ENSP00000501954.1:p.Leu608Arg
ENST00000675883.1:c.1922T>G	ENSP00000501592.1:p.Leu641Arg
ENST00000675945.1:c.*644T>G	ENSP00000501835.1:n.*644T>G
ENST00000676014.1:c.1946T>G	ENSP00000502058.1:p.Leu649Arg
ENST00000676035.1:n.1665T>G
ENST00000676106.1:n.2040T>G
ENST00000676137.1:n.2033T>G
ENST00000676170.1:c.2084T>G	ENSP00000502177.1:p.Leu695Arg
ENST00000676318.1:c.*2833T>G	ENSP00000502300.1:n.*2833T>G
ENST00000676336.1:c.*616T>G	ENSP00000502686.1:n.*616T>G
ENST00000676349.1:c.*1691T>G	ENSP00000502155.1:n.*1691T>G
ENST00000676399.1:n.1906T>G
ENST00000676409.1:n.2063T>G
ENST00000300417.10:c.2003T>G	ENSP00000300417.6:p.Leu668Arg
ENST00000323301.8:c.2003T>G	ENSP00000322937.4:p.Leu668Arg
ENST00000373322.1:c.2003T>G	ENSP00000362419.1:p.Leu668Arg
ENST00000373324.8:c.1922T>G	ENSP00000362421.4:p.Leu641Arg
ENST00000483302.5:n.1225T>G
NM_001005373.3:c.2003T>G	NP_001005373.1:p.Leu668Arg
NM_001005374.3:c.2003T>G	NP_001005374.1:p.Leu668Arg
NM_001190723.2:c.1922T>G	NP_001177652.1:p.Leu641Arg
NM_138361.5:c.2003T>G , LRG_373t1:c.2003T>G	NP_612370.3:p.Leu668Arg
XM_006717316.2:c.1904T>G	XP_006717379.1:p.Leu635Arg
XM_006717316.4:c.1904T>G	XP_006717379.1:p.Leu635Arg
XM_017015283.1:c.2003T>G	XP_016870772.1:p.Leu668Arg
XM_017015284.2:c.1214T>G	XP_016870773.1:p.Leu405Arg
XR_001746415.2:n.2538T>G
XR_929874.3:n.2362T>G
NM_001190723.3:c.1922T>G	NP_001177652.1:p.Leu641Arg
NM_001005373.4:c.2003T>G MANE Select	NP_001005373.1:p.Leu668Arg
NM_001005374.4:c.2003T>G	NP_001005374.1:p.Leu668Arg
NM_001384142.1:c.2003T>G	NP_001371071.1:p.Leu668Arg
NM_001384143.1:c.1904T>G	NP_001371072.1:p.Leu635Arg
NM_001384144.1:c.1214T>G	NP_001371073.1:p.Leu405Arg
NR_168891.1:n.2532T>G
NR_168892.1:n.2356T>G