Canonical Allele Identifier: CA16605315

Gene: LRSAM1

Linked Data

• ClinVar Variation Id: 382733
• ClinVar RCV Id: RCV000437166 ; RCV002418276
• dbSNP Id: rs1057521438
• gnomAD v2: 9-130263395-A-G
• gnomAD v4: 9-127501116-A-G
• MyVariant Identifiers: chr9:g.130263395A>G (hg19) ; chr9:g.127501116A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501116A>G , CM000671.2:g.127501116A>G	GRCh38
NC_000009.11:g.130263395A>G , CM000671.1:g.130263395A>G	GRCh37
NC_000009.10:g.129303216A>G	NCBI36
NG_032008.1:g.54631A>G , LRG_373:g.54631A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.2019A>G MANE Select	ENSP00000300417.6:p.Ser673=
ENST00000472068.2:c.*1743A>G	ENSP00000501555.1:n.*1743A>G
ENST00000483302.6:n.2684A>G
ENST00000498513.6:c.*910A>G	ENSP00000501637.1:n.*910A>G
ENST00000674511.1:n.1618A>G
ENST00000674516.1:c.*635A>G	ENSP00000502441.1:n.*635A>G
ENST00000674621.1:n.1861-2257A>G
ENST00000674771.1:c.*662A>G	ENSP00000502627.1:n.*662A>G
ENST00000674784.1:c.*1079A>G	ENSP00000501837.1:n.*1079A>G
ENST00000674970.1:c.*1793A>G	ENSP00000502493.1:n.*1793A>G
ENST00000675012.1:n.1963A>G
ENST00000675141.1:c.1920A>G	ENSP00000502420.1:p.Ser640=
ENST00000675198.1:n.1899A>G
ENST00000675213.1:c.1974A>G	ENSP00000502218.1:p.Ser658=
ENST00000675224.1:c.*85A>G	ENSP00000501869.1:n.*85A>G
ENST00000675253.1:c.*691A>G	ENSP00000502557.1:n.*691A>G
ENST00000675445.1:c.*1691A>G	ENSP00000502253.1:n.*1691A>G
ENST00000675448.1:c.2019A>G	ENSP00000502167.1:p.Ser673=
ENST00000675521.1:n.1929A>G
ENST00000675572.1:c.1920A>G	ENSP00000501598.1:p.Ser640=
ENST00000675641.1:c.*761A>G	ENSP00000501845.1:n.*761A>G
ENST00000675657.1:c.*632A>G	ENSP00000502002.1:n.*632A>G
ENST00000675662.1:n.1814A>G
ENST00000675789.1:c.1839A>G	ENSP00000501954.1:p.Ser613=
ENST00000675883.1:c.1938A>G	ENSP00000501592.1:p.Ser646=
ENST00000675945.1:c.*660A>G	ENSP00000501835.1:n.*660A>G
ENST00000676014.1:c.1962A>G	ENSP00000502058.1:p.Ser654=
ENST00000676035.1:n.1681A>G
ENST00000676106.1:n.2056A>G
ENST00000676137.1:n.2049A>G
ENST00000676170.1:c.2100A>G	ENSP00000502177.1:p.Ser700=
ENST00000676318.1:c.*2849A>G	ENSP00000502300.1:n.*2849A>G
ENST00000676336.1:c.*632A>G	ENSP00000502686.1:n.*632A>G
ENST00000676349.1:c.*1707A>G	ENSP00000502155.1:n.*1707A>G
ENST00000676399.1:n.1922A>G
ENST00000676409.1:n.2079A>G
ENST00000300417.10:c.2019A>G	ENSP00000300417.6:p.Ser673=
ENST00000323301.8:c.2019A>G	ENSP00000322937.4:p.Ser673=
ENST00000373322.1:c.2019A>G	ENSP00000362419.1:p.Ser673=
ENST00000373324.8:c.1938A>G	ENSP00000362421.4:p.Ser646=
ENST00000483302.5:n.1241A>G
NM_001005373.3:c.2019A>G	NP_001005373.1:p.Ser673=
NM_001005374.3:c.2019A>G	NP_001005374.1:p.Ser673=
NM_001190723.2:c.1938A>G	NP_001177652.1:p.Ser646=
NM_138361.5:c.2019A>G , LRG_373t1:c.2019A>G	NP_612370.3:p.Ser673=
XM_006717316.2:c.1920A>G	XP_006717379.1:p.Ser640=
XM_006717316.4:c.1920A>G	XP_006717379.1:p.Ser640=
XM_017015283.1:c.2019A>G	XP_016870772.1:p.Ser673=
XM_017015284.2:c.1230A>G	XP_016870773.1:p.Ser410=
XR_001746415.2:n.2554A>G
XR_929874.3:n.2378A>G
NM_001190723.3:c.1938A>G	NP_001177652.1:p.Ser646=
NM_001005373.4:c.2019A>G MANE Select	NP_001005373.1:p.Ser673=
NM_001005374.4:c.2019A>G	NP_001005374.1:p.Ser673=
NM_001384142.1:c.2019A>G	NP_001371071.1:p.Ser673=
NM_001384143.1:c.1920A>G	NP_001371072.1:p.Ser640=
NM_001384144.1:c.1230A>G	NP_001371073.1:p.Ser410=
NR_168891.1:n.2548A>G
NR_168892.1:n.2372A>G