Canonical Allele Identifier: CA5247216

Gene: LRSAM1

Linked Data

• ClinVar Variation Id: 387878
• ClinVar RCV Id: RCV001002275 ; RCV001174257 ; RCV001712391 ; RCV002418304
• dbSNP Id: rs140336379
• ExAC: 9:130263350 T / C
• gnomAD v2: 9-130263350-T-C
• gnomAD v3: 9-127501071-T-C
• gnomAD v4: 9-127501071-T-C
• MyVariant Identifiers: chr9:g.130263350T>C (hg19) ; chr9:g.127501071T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501071T>C , CM000671.2:g.127501071T>C	GRCh38
NC_000009.11:g.130263350T>C , CM000671.1:g.130263350T>C	GRCh37
NC_000009.10:g.129303171T>C	NCBI36
NG_032008.1:g.54586T>C , LRG_373:g.54586T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.1974T>C MANE Select	ENSP00000300417.6:p.Ser658=
ENST00000472068.2:c.*1698T>C	ENSP00000501555.1:n.*1698T>C
ENST00000483302.6:n.2639T>C
ENST00000498513.6:c.*865T>C	ENSP00000501637.1:n.*865T>C
ENST00000674511.1:n.1573T>C
ENST00000674516.1:c.*590T>C	ENSP00000502441.1:n.*590T>C
ENST00000674621.1:n.1861-2302T>C
ENST00000674771.1:c.*617T>C	ENSP00000502627.1:n.*617T>C
ENST00000674784.1:c.*1034T>C	ENSP00000501837.1:n.*1034T>C
ENST00000674970.1:c.*1748T>C	ENSP00000502493.1:n.*1748T>C
ENST00000675012.1:n.1918T>C
ENST00000675141.1:c.1875T>C	ENSP00000502420.1:p.Ser625=
ENST00000675198.1:n.1854T>C
ENST00000675213.1:c.1929T>C	ENSP00000502218.1:p.Ser643=
ENST00000675224.1:c.*40T>C	ENSP00000501869.1:n.*40T>C
ENST00000675253.1:c.*646T>C	ENSP00000502557.1:n.*646T>C
ENST00000675445.1:c.*1646T>C	ENSP00000502253.1:n.*1646T>C
ENST00000675448.1:c.1974T>C	ENSP00000502167.1:p.Ser658=
ENST00000675521.1:n.1884T>C
ENST00000675572.1:c.1875T>C	ENSP00000501598.1:p.Ser625=
ENST00000675641.1:c.*716T>C	ENSP00000501845.1:n.*716T>C
ENST00000675657.1:c.*587T>C	ENSP00000502002.1:n.*587T>C
ENST00000675662.1:n.1769T>C
ENST00000675789.1:c.1794T>C	ENSP00000501954.1:p.Ser598=
ENST00000675883.1:c.1893T>C	ENSP00000501592.1:p.Ser631=
ENST00000675945.1:c.*615T>C	ENSP00000501835.1:n.*615T>C
ENST00000676014.1:c.1917T>C	ENSP00000502058.1:p.Ser639=
ENST00000676035.1:n.1636T>C
ENST00000676106.1:n.2011T>C
ENST00000676137.1:n.2004T>C
ENST00000676170.1:c.2055T>C	ENSP00000502177.1:p.Ser685=
ENST00000676318.1:c.*2804T>C	ENSP00000502300.1:n.*2804T>C
ENST00000676336.1:c.*587T>C	ENSP00000502686.1:n.*587T>C
ENST00000676349.1:c.*1662T>C	ENSP00000502155.1:n.*1662T>C
ENST00000676399.1:n.1877T>C
ENST00000676409.1:n.2034T>C
ENST00000300417.10:c.1974T>C	ENSP00000300417.6:p.Ser658=
ENST00000323301.8:c.1974T>C	ENSP00000322937.4:p.Ser658=
ENST00000373322.1:c.1974T>C	ENSP00000362419.1:p.Ser658=
ENST00000373324.8:c.1893T>C	ENSP00000362421.4:p.Ser631=
ENST00000483302.5:n.1196T>C
NM_001005373.3:c.1974T>C	NP_001005373.1:p.Ser658=
NM_001005374.3:c.1974T>C	NP_001005374.1:p.Ser658=
NM_001190723.2:c.1893T>C	NP_001177652.1:p.Ser631=
NM_138361.5:c.1974T>C , LRG_373t1:c.1974T>C	NP_612370.3:p.Ser658=
XM_006717316.2:c.1875T>C	XP_006717379.1:p.Ser625=
XM_006717316.4:c.1875T>C	XP_006717379.1:p.Ser625=
XM_017015283.1:c.1974T>C	XP_016870772.1:p.Ser658=
XM_017015284.2:c.1185T>C	XP_016870773.1:p.Ser395=
XR_001746415.2:n.2509T>C
XR_929874.3:n.2333T>C
NM_001190723.3:c.1893T>C	NP_001177652.1:p.Ser631=
NM_001005373.4:c.1974T>C MANE Select	NP_001005373.1:p.Ser658=
NM_001005374.4:c.1974T>C	NP_001005374.1:p.Ser658=
NM_001384142.1:c.1974T>C	NP_001371071.1:p.Ser658=
NM_001384143.1:c.1875T>C	NP_001371072.1:p.Ser625=
NM_001384144.1:c.1185T>C	NP_001371073.1:p.Ser395=
NR_168891.1:n.2503T>C
NR_168892.1:n.2327T>C