Canonical Allele Identifier: CA10584021

Gene: LRSAM1

Linked Data

• ClinVar Variation Id: 242907
• ClinVar RCV Id: RCV000234917 ; RCV001171878
• dbSNP Id: rs879253755
• MyVariant Identifiers: chr9:g.130265074T>C (hg19) ; chr9:g.127502795T>C (hg38)
• PubMed: PMID:24894446

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127502795T>C , CM000671.2:g.127502795T>C	GRCh38
NC_000009.11:g.130265074T>C , CM000671.1:g.130265074T>C	GRCh37
NC_000009.10:g.129304895T>C	NCBI36
NG_032008.1:g.56310T>C , LRG_373:g.56310T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.2068T>C MANE Select	ENSP00000300417.6:p.Cys690Arg
ENST00000483302.6:n.2733T>C
ENST00000498513.6:c.*959T>C	ENSP00000501637.1:n.*959T>C
ENST00000674511.1:n.1667T>C
ENST00000674516.1:c.*684T>C	ENSP00000502441.1:n.*684T>C
ENST00000674621.1:n.1861-578T>C
ENST00000674771.1:c.*711T>C	ENSP00000502627.1:n.*711T>C
ENST00000674784.1:c.*1128T>C	ENSP00000501837.1:n.*1128T>C
ENST00000674970.1:c.*1842T>C	ENSP00000502493.1:n.*1842T>C
ENST00000675012.1:n.2012T>C
ENST00000675141.1:c.1969T>C	ENSP00000502420.1:p.Cys657Arg
ENST00000675198.1:n.1948T>C
ENST00000675213.1:c.2023T>C	ENSP00000502218.1:p.Cys675Arg
ENST00000675224.1:c.*134T>C	ENSP00000501869.1:n.*134T>C
ENST00000675253.1:c.*740T>C	ENSP00000502557.1:n.*740T>C
ENST00000675445.1:c.*1740T>C	ENSP00000502253.1:n.*1740T>C
ENST00000675448.1:c.2068T>C	ENSP00000502167.1:p.Cys690Arg
ENST00000675521.1:n.1978T>C
ENST00000675572.1:c.1969T>C	ENSP00000501598.1:p.Cys657Arg
ENST00000675641.1:c.*810T>C	ENSP00000501845.1:n.*810T>C
ENST00000675657.1:c.*681T>C	ENSP00000502002.1:n.*681T>C
ENST00000675662.1:n.1863T>C
ENST00000675789.1:c.1888T>C	ENSP00000501954.1:p.Cys630Arg
ENST00000675883.1:c.1987T>C	ENSP00000501592.1:p.Cys663Arg
ENST00000675945.1:c.*709T>C	ENSP00000501835.1:n.*709T>C
ENST00000676014.1:c.2011T>C	ENSP00000502058.1:p.Cys671Arg
ENST00000676035.1:n.1730T>C
ENST00000676106.1:n.2105T>C
ENST00000676137.1:n.2098T>C
ENST00000676170.1:c.2149T>C	ENSP00000502177.1:p.Cys717Arg
ENST00000676318.1:c.*2898T>C	ENSP00000502300.1:n.*2898T>C
ENST00000676336.1:c.*681T>C	ENSP00000502686.1:n.*681T>C
ENST00000676349.1:c.*1756T>C	ENSP00000502155.1:n.*1756T>C
ENST00000676399.1:n.1971T>C
ENST00000676409.1:n.2128T>C
ENST00000300417.10:c.2068T>C	ENSP00000300417.6:p.Cys690Arg
ENST00000323301.8:c.2068T>C	ENSP00000322937.4:p.Cys690Arg
ENST00000373322.1:c.2068T>C	ENSP00000362419.1:p.Cys690Arg
ENST00000373324.8:c.1987T>C	ENSP00000362421.4:p.Cys663Arg
ENST00000483302.5:n.1290T>C
NM_001005373.3:c.2068T>C	NP_001005373.1:p.Cys690Arg
NM_001005374.3:c.2068T>C	NP_001005374.1:p.Cys690Arg
NM_001190723.2:c.1987T>C	NP_001177652.1:p.Cys663Arg
NM_138361.5:c.2068T>C , LRG_373t1:c.2068T>C	NP_612370.3:p.Cys690Arg
XM_006717316.2:c.1969T>C	XP_006717379.1:p.Cys657Arg
XM_006717316.4:c.1969T>C	XP_006717379.1:p.Cys657Arg
XM_017015283.1:c.2068T>C	XP_016870772.1:p.Cys690Arg
XM_017015284.2:c.1279T>C	XP_016870773.1:p.Cys427Arg
XR_001746415.2:n.2603T>C
XR_929874.3:n.2427T>C
NM_001190723.3:c.1987T>C	NP_001177652.1:p.Cys663Arg
NM_001005373.4:c.2068T>C MANE Select	NP_001005373.1:p.Cys690Arg
NM_001005374.4:c.2068T>C	NP_001005374.1:p.Cys690Arg
NM_001384142.1:c.2068T>C	NP_001371071.1:p.Cys690Arg
NM_001384143.1:c.1969T>C	NP_001371072.1:p.Cys657Arg
NM_001384144.1:c.1279T>C	NP_001371073.1:p.Cys427Arg
NR_168891.1:n.2597T>C
NR_168892.1:n.2421T>C