Canonical Allele Identifier: CA467236920

Gene: LRSAM1

Linked Data

• ClinVar Variation Id: 1121331
• ClinVar RCV Id: RCV001451572
• dbSNP Id: rs1229154466
• gnomAD v2: 9-130263392-C-G
• gnomAD v3: 9-127501113-C-G
• gnomAD v4: 9-127501113-C-G
• MyVariant Identifiers: chr9:g.130263392C>G (hg19) ; chr9:g.127501113C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501113C>G , CM000671.2:g.127501113C>G	GRCh38
NC_000009.11:g.130263392C>G , CM000671.1:g.130263392C>G	GRCh37
NC_000009.10:g.129303213C>G	NCBI36
NG_032008.1:g.54628C>G , LRG_373:g.54628C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.2016C>G MANE Select	ENSP00000300417.6:p.Ala672=
ENST00000472068.2:c.*1740C>G	ENSP00000501555.1:n.*1740C>G
ENST00000483302.6:n.2681C>G
ENST00000498513.6:c.*907C>G	ENSP00000501637.1:n.*907C>G
ENST00000674511.1:n.1615C>G
ENST00000674516.1:c.*632C>G	ENSP00000502441.1:n.*632C>G
ENST00000674621.1:n.1861-2260C>G
ENST00000674771.1:c.*659C>G	ENSP00000502627.1:n.*659C>G
ENST00000674784.1:c.*1076C>G	ENSP00000501837.1:n.*1076C>G
ENST00000674970.1:c.*1790C>G	ENSP00000502493.1:n.*1790C>G
ENST00000675012.1:n.1960C>G
ENST00000675141.1:c.1917C>G	ENSP00000502420.1:p.Ala639=
ENST00000675198.1:n.1896C>G
ENST00000675213.1:c.1971C>G	ENSP00000502218.1:p.Ala657=
ENST00000675224.1:c.*82C>G	ENSP00000501869.1:n.*82C>G
ENST00000675253.1:c.*688C>G	ENSP00000502557.1:n.*688C>G
ENST00000675445.1:c.*1688C>G	ENSP00000502253.1:n.*1688C>G
ENST00000675448.1:c.2016C>G	ENSP00000502167.1:p.Ala672=
ENST00000675521.1:n.1926C>G
ENST00000675572.1:c.1917C>G	ENSP00000501598.1:p.Ala639=
ENST00000675641.1:c.*758C>G	ENSP00000501845.1:n.*758C>G
ENST00000675657.1:c.*629C>G	ENSP00000502002.1:n.*629C>G
ENST00000675662.1:n.1811C>G
ENST00000675789.1:c.1836C>G	ENSP00000501954.1:p.Ala612=
ENST00000675883.1:c.1935C>G	ENSP00000501592.1:p.Ala645=
ENST00000675945.1:c.*657C>G	ENSP00000501835.1:n.*657C>G
ENST00000676014.1:c.1959C>G	ENSP00000502058.1:p.Ala653=
ENST00000676035.1:n.1678C>G
ENST00000676106.1:n.2053C>G
ENST00000676137.1:n.2046C>G
ENST00000676170.1:c.2097C>G	ENSP00000502177.1:p.Ala699=
ENST00000676318.1:c.*2846C>G	ENSP00000502300.1:n.*2846C>G
ENST00000676336.1:c.*629C>G	ENSP00000502686.1:n.*629C>G
ENST00000676349.1:c.*1704C>G	ENSP00000502155.1:n.*1704C>G
ENST00000676399.1:n.1919C>G
ENST00000676409.1:n.2076C>G
ENST00000300417.10:c.2016C>G	ENSP00000300417.6:p.Ala672=
ENST00000323301.8:c.2016C>G	ENSP00000322937.4:p.Ala672=
ENST00000373322.1:c.2016C>G	ENSP00000362419.1:p.Ala672=
ENST00000373324.8:c.1935C>G	ENSP00000362421.4:p.Ala645=
ENST00000483302.5:n.1238C>G
NM_001005373.3:c.2016C>G	NP_001005373.1:p.Ala672=
NM_001005374.3:c.2016C>G	NP_001005374.1:p.Ala672=
NM_001190723.2:c.1935C>G	NP_001177652.1:p.Ala645=
NM_138361.5:c.2016C>G , LRG_373t1:c.2016C>G	NP_612370.3:p.Ala672=
XM_006717316.2:c.1917C>G	XP_006717379.1:p.Ala639=
XM_006717316.4:c.1917C>G	XP_006717379.1:p.Ala639=
XM_017015283.1:c.2016C>G	XP_016870772.1:p.Ala672=
XM_017015284.2:c.1227C>G	XP_016870773.1:p.Ala409=
XR_001746415.2:n.2551C>G
XR_929874.3:n.2375C>G
NM_001190723.3:c.1935C>G	NP_001177652.1:p.Ala645=
NM_001005373.4:c.2016C>G MANE Select	NP_001005373.1:p.Ala672=
NM_001005374.4:c.2016C>G	NP_001005374.1:p.Ala672=
NM_001384142.1:c.2016C>G	NP_001371071.1:p.Ala672=
NM_001384143.1:c.1917C>G	NP_001371072.1:p.Ala639=
NM_001384144.1:c.1227C>G	NP_001371073.1:p.Ala409=
NR_168891.1:n.2545C>G
NR_168892.1:n.2369C>G