Canonical Allele Identifier: CA5247211

Gene: LRSAM1

Linked Data

• ClinVar Variation Id: 639489
• ClinVar RCV Id: RCV000792295
• dbSNP Id: rs775965001
• ExAC: 9:130263327 G / GC
• gnomAD v2: 9-130263327-G-GC
• gnomAD v3: 9-127501048-G-GC
• gnomAD v4: 9-127501048-G-GC
• MyVariant Identifiers: chr9:g.130263327_130263328insC (hg19) ; chr9:g.127501048_127501049insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501054dup , CM000671.2:g.127501054dup	GRCh38
NC_000009.11:g.130263333dup , CM000671.1:g.130263333dup	GRCh37
NC_000009.10:g.129303154dup	NCBI36
NG_032008.1:g.54569dup , LRG_373:g.54569dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.1957dup MANE Select	ENSP00000300417.6:p.Gln653ProfsTer5
ENST00000472068.2:c.*1681dup	ENSP00000501555.1:n.*1681dup
ENST00000483302.6:n.2622dup
ENST00000498513.6:c.*848dup	ENSP00000501637.1:n.*848dup
ENST00000674511.1:n.1556dup
ENST00000674516.1:c.*573dup	ENSP00000502441.1:n.*573dup
ENST00000674621.1:n.1861-2319dup
ENST00000674771.1:c.*600dup	ENSP00000502627.1:n.*600dup
ENST00000674784.1:c.*1017dup	ENSP00000501837.1:n.*1017dup
ENST00000674970.1:c.*1731dup	ENSP00000502493.1:n.*1731dup
ENST00000675012.1:n.1901dup
ENST00000675141.1:c.1858dup	ENSP00000502420.1:p.Gln620ProfsTer5
ENST00000675198.1:n.1837dup
ENST00000675213.1:c.1912dup	ENSP00000502218.1:p.Gln638ProfsTer5
ENST00000675224.1:c.*23dup	ENSP00000501869.1:n.*23dup
ENST00000675253.1:c.*629dup	ENSP00000502557.1:n.*629dup
ENST00000675445.1:c.*1629dup	ENSP00000502253.1:n.*1629dup
ENST00000675448.1:c.1957dup	ENSP00000502167.1:p.Gln653ProfsTer5
ENST00000675521.1:n.1867dup
ENST00000675572.1:c.1858dup	ENSP00000501598.1:p.Gln620ProfsTer5
ENST00000675641.1:c.*699dup	ENSP00000501845.1:n.*699dup
ENST00000675657.1:c.*570dup	ENSP00000502002.1:n.*570dup
ENST00000675662.1:n.1752dup
ENST00000675789.1:c.1777dup	ENSP00000501954.1:p.Gln593ProfsTer5
ENST00000675883.1:c.1876dup	ENSP00000501592.1:p.Gln626ProfsTer5
ENST00000675945.1:c.*598dup	ENSP00000501835.1:n.*598dup
ENST00000676014.1:c.1900dup	ENSP00000502058.1:p.Gln634ProfsTer5
ENST00000676035.1:n.1619dup
ENST00000676106.1:n.1994dup
ENST00000676137.1:n.1987dup
ENST00000676170.1:c.2038dup	ENSP00000502177.1:p.Gln680ProfsTer5
ENST00000676318.1:c.*2787dup	ENSP00000502300.1:n.*2787dup
ENST00000676336.1:c.*570dup	ENSP00000502686.1:n.*570dup
ENST00000676349.1:c.*1645dup	ENSP00000502155.1:n.*1645dup
ENST00000676399.1:n.1860dup
ENST00000676409.1:n.2017dup
ENST00000300417.10:c.1957dup	ENSP00000300417.6:p.Gln653ProfsTer5
ENST00000323301.8:c.1957dup	ENSP00000322937.4:p.Gln653ProfsTer5
ENST00000373322.1:c.1957dup	ENSP00000362419.1:p.Gln653ProfsTer5
ENST00000373324.8:c.1876dup	ENSP00000362421.4:p.Gln626ProfsTer5
ENST00000483302.5:n.1179dup
NM_001005373.3:c.1957dup	NP_001005373.1:p.Gln653ProfsTer5
NM_001005374.3:c.1957dup	NP_001005374.1:p.Gln653ProfsTer5
NM_001190723.2:c.1876dup	NP_001177652.1:p.Gln626ProfsTer5
NM_138361.5:c.1957dup , LRG_373t1:c.1957dup	NP_612370.3:p.Gln653ProfsTer5
XM_006717316.2:c.1858dup	XP_006717379.1:p.Gln620ProfsTer5
XM_006717316.4:c.1858dup	XP_006717379.1:p.Gln620ProfsTer5
XM_017015283.1:c.1957dup	XP_016870772.1:p.Gln653ProfsTer5
XM_017015284.2:c.1168dup	XP_016870773.1:p.Gln390ProfsTer5
XR_001746415.2:n.2492dup
XR_929874.3:n.2316dup
NM_001190723.3:c.1876dup	NP_001177652.1:p.Gln626ProfsTer5
NM_001005373.4:c.1957dup MANE Select	NP_001005373.1:p.Gln653ProfsTer5
NM_001005374.4:c.1957dup	NP_001005374.1:p.Gln653ProfsTer5
NM_001384142.1:c.1957dup	NP_001371071.1:p.Gln653ProfsTer5
NM_001384143.1:c.1858dup	NP_001371072.1:p.Gln620ProfsTer5
NM_001384144.1:c.1168dup	NP_001371073.1:p.Gln390ProfsTer5
NR_168891.1:n.2486dup
NR_168892.1:n.2310dup