Canonical Allele Identifier: CA5247204

Gene: LRSAM1

Linked Data

• ClinVar Variation Id: 1063799
• ClinVar RCV Id: RCV001373677 ; RCV002413902
• dbSNP Id: rs201284198
• ExAC: 9:130263306 G / A
• gnomAD v2: 9-130263306-G-A
• gnomAD v3: 9-127501027-G-A
• gnomAD v4: 9-127501027-G-A
• MyVariant Identifiers: chr9:g.130263306G>A (hg19) ; chr9:g.127501027G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501027G>A , CM000671.2:g.127501027G>A	GRCh38
NC_000009.11:g.130263306G>A , CM000671.1:g.130263306G>A	GRCh37
NC_000009.10:g.129303127G>A	NCBI36
NG_032008.1:g.54542G>A , LRG_373:g.54542G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.1930G>A MANE Select	ENSP00000300417.6:p.Gly644Ser
ENST00000472068.2:c.*1654G>A	ENSP00000501555.1:n.*1654G>A
ENST00000483302.6:n.2595G>A
ENST00000498513.6:c.*821G>A	ENSP00000501637.1:n.*821G>A
ENST00000674511.1:n.1529G>A
ENST00000674516.1:c.*546G>A	ENSP00000502441.1:n.*546G>A
ENST00000674621.1:n.1861-2346G>A
ENST00000674771.1:c.*573G>A	ENSP00000502627.1:n.*573G>A
ENST00000674784.1:c.*990G>A	ENSP00000501837.1:n.*990G>A
ENST00000674970.1:c.*1704G>A	ENSP00000502493.1:n.*1704G>A
ENST00000675012.1:n.1874G>A
ENST00000675141.1:c.1831G>A	ENSP00000502420.1:p.Gly611Ser
ENST00000675198.1:n.1810G>A
ENST00000675213.1:c.1885G>A	ENSP00000502218.1:p.Gly629Ser
ENST00000675224.1:c.1958G>A	ENSP00000501869.1:p.Gly653Glu
ENST00000675253.1:c.*602G>A	ENSP00000502557.1:n.*602G>A
ENST00000675445.1:c.*1602G>A	ENSP00000502253.1:n.*1602G>A
ENST00000675448.1:c.1930G>A	ENSP00000502167.1:p.Gly644Ser
ENST00000675521.1:n.1840G>A
ENST00000675572.1:c.1831G>A	ENSP00000501598.1:p.Gly611Ser
ENST00000675641.1:c.*672G>A	ENSP00000501845.1:n.*672G>A
ENST00000675657.1:c.*543G>A	ENSP00000502002.1:n.*543G>A
ENST00000675662.1:n.1725G>A
ENST00000675789.1:c.1750G>A	ENSP00000501954.1:p.Gly584Ser
ENST00000675883.1:c.1849G>A	ENSP00000501592.1:p.Gly617Ser
ENST00000675945.1:c.*571G>A	ENSP00000501835.1:n.*571G>A
ENST00000676014.1:c.1873G>A	ENSP00000502058.1:p.Gly625Ser
ENST00000676035.1:n.1592G>A
ENST00000676106.1:n.1967G>A
ENST00000676137.1:n.1960G>A
ENST00000676170.1:c.2011G>A	ENSP00000502177.1:p.Gly671Ser
ENST00000676318.1:c.*2760G>A	ENSP00000502300.1:n.*2760G>A
ENST00000676336.1:c.*543G>A	ENSP00000502686.1:n.*543G>A
ENST00000676349.1:c.*1618G>A	ENSP00000502155.1:n.*1618G>A
ENST00000676399.1:n.1833G>A
ENST00000676409.1:n.1990G>A
ENST00000300417.10:c.1930G>A	ENSP00000300417.6:p.Gly644Ser
ENST00000323301.8:c.1930G>A	ENSP00000322937.4:p.Gly644Ser
ENST00000373322.1:c.1930G>A	ENSP00000362419.1:p.Gly644Ser
ENST00000373324.8:c.1849G>A	ENSP00000362421.4:p.Gly617Ser
ENST00000472068.1:n.823G>A
ENST00000483302.5:n.1152G>A
NM_001005373.3:c.1930G>A	NP_001005373.1:p.Gly644Ser
NM_001005374.3:c.1930G>A	NP_001005374.1:p.Gly644Ser
NM_001190723.2:c.1849G>A	NP_001177652.1:p.Gly617Ser
NM_138361.5:c.1930G>A , LRG_373t1:c.1930G>A	NP_612370.3:p.Gly644Ser
XM_006717316.2:c.1831G>A	XP_006717379.1:p.Gly611Ser
XM_006717316.4:c.1831G>A	XP_006717379.1:p.Gly611Ser
XM_017015283.1:c.1930G>A	XP_016870772.1:p.Gly644Ser
XM_017015284.2:c.1141G>A	XP_016870773.1:p.Gly381Ser
XR_001746415.2:n.2465G>A
XR_929874.3:n.2289G>A
NM_001190723.3:c.1849G>A	NP_001177652.1:p.Gly617Ser
NM_001005373.4:c.1930G>A MANE Select	NP_001005373.1:p.Gly644Ser
NM_001005374.4:c.1930G>A	NP_001005374.1:p.Gly644Ser
NM_001384142.1:c.1930G>A	NP_001371071.1:p.Gly644Ser
NM_001384143.1:c.1831G>A	NP_001371072.1:p.Gly611Ser
NM_001384144.1:c.1141G>A	NP_001371073.1:p.Gly381Ser
NR_168891.1:n.2459G>A
NR_168892.1:n.2283G>A