Canonical Allele Identifier: CA5247214

Gene: LRSAM1

Linked Data

• dbSNP Id: rs564250195
• ExAC: 9:130263333 C / A
• gnomAD v2: 9-130263333-C-A
• gnomAD v3: 9-127501054-C-A
• gnomAD v4: 9-127501054-C-A
• MyVariant Identifiers: chr9:g.130263333C>A (hg19) ; chr9:g.127501054C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.1957C>A MANE Select	ENSP00000300417.6:p.Gln653Lys
ENST00000472068.2:c.*1681C>A	ENSP00000501555.1:n.*1681C>A
ENST00000483302.6:n.2622C>A
ENST00000498513.6:c.*848C>A	ENSP00000501637.1:n.*848C>A
ENST00000674511.1:n.1556C>A
ENST00000674516.1:c.*573C>A	ENSP00000502441.1:n.*573C>A
ENST00000674621.1:n.1861-2319C>A
ENST00000674771.1:c.*600C>A	ENSP00000502627.1:n.*600C>A
ENST00000674784.1:c.*1017C>A	ENSP00000501837.1:n.*1017C>A
ENST00000674970.1:c.*1731C>A	ENSP00000502493.1:n.*1731C>A
ENST00000675012.1:n.1901C>A
ENST00000675141.1:c.1858C>A	ENSP00000502420.1:p.Gln620Lys
ENST00000675198.1:n.1837C>A
ENST00000675213.1:c.1912C>A	ENSP00000502218.1:p.Gln638Lys
ENST00000675224.1:c.*23C>A	ENSP00000501869.1:n.*23C>A
ENST00000675253.1:c.*629C>A	ENSP00000502557.1:n.*629C>A
ENST00000675445.1:c.*1629C>A	ENSP00000502253.1:n.*1629C>A
ENST00000675448.1:c.1957C>A	ENSP00000502167.1:p.Gln653Lys
ENST00000675521.1:n.1867C>A
ENST00000675572.1:c.1858C>A	ENSP00000501598.1:p.Gln620Lys
ENST00000675641.1:c.*699C>A	ENSP00000501845.1:n.*699C>A
ENST00000675657.1:c.*570C>A	ENSP00000502002.1:n.*570C>A
ENST00000675662.1:n.1752C>A
ENST00000675789.1:c.1777C>A	ENSP00000501954.1:p.Gln593Lys
ENST00000675883.1:c.1876C>A	ENSP00000501592.1:p.Gln626Lys
ENST00000675945.1:c.*598C>A	ENSP00000501835.1:n.*598C>A
ENST00000676014.1:c.1900C>A	ENSP00000502058.1:p.Gln634Lys
ENST00000676035.1:n.1619C>A
ENST00000676106.1:n.1994C>A
ENST00000676137.1:n.1987C>A
ENST00000676170.1:c.2038C>A	ENSP00000502177.1:p.Gln680Lys
ENST00000676318.1:c.*2787C>A	ENSP00000502300.1:n.*2787C>A
ENST00000676336.1:c.*570C>A	ENSP00000502686.1:n.*570C>A
ENST00000676349.1:c.*1645C>A	ENSP00000502155.1:n.*1645C>A
ENST00000676399.1:n.1860C>A
ENST00000676409.1:n.2017C>A
ENST00000300417.10:c.1957C>A	ENSP00000300417.6:p.Gln653Lys
ENST00000323301.8:c.1957C>A	ENSP00000322937.4:p.Gln653Lys
ENST00000373322.1:c.1957C>A	ENSP00000362419.1:p.Gln653Lys
ENST00000373324.8:c.1876C>A	ENSP00000362421.4:p.Gln626Lys
ENST00000472068.1:n.850C>A
ENST00000483302.5:n.1179C>A
NM_001005373.3:c.1957C>A	NP_001005373.1:p.Gln653Lys
NM_001005374.3:c.1957C>A	NP_001005374.1:p.Gln653Lys
NM_001190723.2:c.1876C>A	NP_001177652.1:p.Gln626Lys
NM_138361.5:c.1957C>A , LRG_373t1:c.1957C>A	NP_612370.3:p.Gln653Lys
XM_006717316.2:c.1858C>A	XP_006717379.1:p.Gln620Lys
XM_006717316.4:c.1858C>A	XP_006717379.1:p.Gln620Lys
XM_017015283.1:c.1957C>A	XP_016870772.1:p.Gln653Lys
XM_017015284.2:c.1168C>A	XP_016870773.1:p.Gln390Lys
XR_001746415.2:n.2492C>A
XR_929874.3:n.2316C>A
NM_001190723.3:c.1876C>A	NP_001177652.1:p.Gln626Lys
NM_001005373.4:c.1957C>A MANE Select	NP_001005373.1:p.Gln653Lys
NM_001005374.4:c.1957C>A	NP_001005374.1:p.Gln653Lys
NM_001384142.1:c.1957C>A	NP_001371071.1:p.Gln653Lys
NM_001384143.1:c.1858C>A	NP_001371072.1:p.Gln620Lys
NM_001384144.1:c.1168C>A	NP_001371073.1:p.Gln390Lys
NR_168891.1:n.2486C>A
NR_168892.1:n.2310C>A