Canonical Allele Identifier: CA10602640

Gene: LRSAM1

Linked Data

• ClinVar Variation Id: 268046
• ClinVar RCV Id: RCV000258766
• dbSNP Id: rs886041051
• MyVariant Identifiers: chr9:g.130265087G>A (hg19) ; chr9:g.127502808G>A (hg38)
• PubMed: PMID:3022865 ; PMID:14985381 ; PMID:27686364

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127502808G>A , CM000671.2:g.127502808G>A	GRCh38
NC_000009.11:g.130265087G>A , CM000671.1:g.130265087G>A	GRCh37
NC_000009.10:g.129304908G>A	NCBI36
NG_032008.1:g.56323G>A , LRG_373:g.56323G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.2081G>A MANE Select	ENSP00000300417.6:p.Cys694Tyr
ENST00000483302.6:n.2746G>A
ENST00000498513.6:c.*972G>A	ENSP00000501637.1:n.*972G>A
ENST00000674511.1:n.1680G>A
ENST00000674516.1:c.*697G>A	ENSP00000502441.1:n.*697G>A
ENST00000674621.1:n.1861-565G>A
ENST00000674771.1:c.*724G>A	ENSP00000502627.1:n.*724G>A
ENST00000674784.1:c.*1141G>A	ENSP00000501837.1:n.*1141G>A
ENST00000674970.1:c.*1855G>A	ENSP00000502493.1:n.*1855G>A
ENST00000675012.1:n.2025G>A
ENST00000675141.1:c.1982G>A	ENSP00000502420.1:p.Cys661Tyr
ENST00000675198.1:n.1961G>A
ENST00000675213.1:c.2036G>A	ENSP00000502218.1:p.Cys679Tyr
ENST00000675224.1:c.*147G>A	ENSP00000501869.1:n.*147G>A
ENST00000675253.1:c.*753G>A	ENSP00000502557.1:n.*753G>A
ENST00000675445.1:c.*1753G>A	ENSP00000502253.1:n.*1753G>A
ENST00000675448.1:c.2081G>A	ENSP00000502167.1:p.Cys694Tyr
ENST00000675521.1:n.1991G>A
ENST00000675572.1:c.1982G>A	ENSP00000501598.1:p.Cys661Tyr
ENST00000675641.1:c.*823G>A	ENSP00000501845.1:n.*823G>A
ENST00000675657.1:c.*694G>A	ENSP00000502002.1:n.*694G>A
ENST00000675662.1:n.1876G>A
ENST00000675789.1:c.1901G>A	ENSP00000501954.1:p.Cys634Tyr
ENST00000675883.1:c.2000G>A	ENSP00000501592.1:p.Cys667Tyr
ENST00000675945.1:c.*722G>A	ENSP00000501835.1:n.*722G>A
ENST00000676014.1:c.2024G>A	ENSP00000502058.1:p.Cys675Tyr
ENST00000676035.1:n.1743G>A
ENST00000676106.1:n.2118G>A
ENST00000676137.1:n.2111G>A
ENST00000676170.1:c.2162G>A	ENSP00000502177.1:p.Cys721Tyr
ENST00000676318.1:c.*2911G>A	ENSP00000502300.1:n.*2911G>A
ENST00000676336.1:c.*694G>A	ENSP00000502686.1:n.*694G>A
ENST00000676349.1:c.*1769G>A	ENSP00000502155.1:n.*1769G>A
ENST00000676399.1:n.1984G>A
ENST00000676409.1:n.2141G>A
ENST00000300417.10:c.2081G>A	ENSP00000300417.6:p.Cys694Tyr
ENST00000323301.8:c.2081G>A	ENSP00000322937.4:p.Cys694Tyr
ENST00000373322.1:c.2081G>A	ENSP00000362419.1:p.Cys694Tyr
ENST00000373324.8:c.2000G>A	ENSP00000362421.4:p.Cys667Tyr
ENST00000483302.5:n.1303G>A
NM_001005373.3:c.2081G>A	NP_001005373.1:p.Cys694Tyr
NM_001005374.3:c.2081G>A	NP_001005374.1:p.Cys694Tyr
NM_001190723.2:c.2000G>A	NP_001177652.1:p.Cys667Tyr
NM_138361.5:c.2081G>A , LRG_373t1:c.2081G>A	NP_612370.3:p.Cys694Tyr
XM_006717316.2:c.1982G>A	XP_006717379.1:p.Cys661Tyr
XM_006717316.4:c.1982G>A	XP_006717379.1:p.Cys661Tyr
XM_017015283.1:c.2081G>A	XP_016870772.1:p.Cys694Tyr
XM_017015284.2:c.1292G>A	XP_016870773.1:p.Cys431Tyr
XR_001746415.2:n.2616G>A
XR_929874.3:n.2440G>A
NM_001190723.3:c.2000G>A	NP_001177652.1:p.Cys667Tyr
NM_001005373.4:c.2081G>A MANE Select	NP_001005373.1:p.Cys694Tyr
NM_001005374.4:c.2081G>A	NP_001005374.1:p.Cys694Tyr
NM_001384142.1:c.2081G>A	NP_001371071.1:p.Cys694Tyr
NM_001384143.1:c.1982G>A	NP_001371072.1:p.Cys661Tyr
NM_001384144.1:c.1292G>A	NP_001371073.1:p.Cys431Tyr
NR_168891.1:n.2610G>A
NR_168892.1:n.2434G>A