Canonical Allele Identifier: CA379108940

Gene: LSP1

Linked Data

• dbSNP Id: rs1187059148
• gnomAD v3: 11-1887543-G-A
• gnomAD v4: 11-1887543-G-A
• MyVariant Identifiers: chr11:g.1908773G>A (hg19) ; chr11:g.1887543G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1887543G>A , CM000673.2:g.1887543G>A	GRCh38
NC_000011.9:g.1908773G>A , CM000673.1:g.1908773G>A	GRCh37
NC_000011.8:g.1865349G>A	NCBI36
NG_011509.1:g.39574G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311604.8:c.1000G>A MANE Select	ENSP00000308383.4:p.Glu334Lys
ENST00000311604.7:c.1000G>A	ENSP00000308383.3:p.Glu334Lys
ENST00000381775.5:c.1384G>A	ENSP00000371194.1:p.Glu462Lys
ENST00000405957.6:c.814G>A	ENSP00000383932.2:p.Glu272Lys
ENST00000406638.6:c.814G>A	ENSP00000384022.2:p.Glu272Lys
ENST00000472974.5:n.870G>A
ENST00000485341.5:n.1496G>A
ENST00000612798.4:c.814G>A	ENSP00000484140.1:p.Glu272Lys
NM_001013253.1:c.814G>A	NP_001013271.1:p.Glu272Lys
NM_001013254.1:c.814G>A	NP_001013272.1:p.Glu272Lys
NM_001013255.1:c.814G>A	NP_001013273.1:p.Glu272Lys
NM_001242932.1:c.1384G>A	NP_001229861.1:p.Glu462Lys
NM_001289005.1:c.814G>A	NP_001275934.1:p.Glu272Lys
NM_002339.2:c.1000G>A	NP_002330.1:p.Glu334Lys
NM_001013253.2:c.814G>A	NP_001013271.1:p.Glu272Lys
NM_002339.3:c.1000G>A MANE Select	NP_002330.1:p.Glu334Lys
NM_001242932.2:c.1384G>A	NP_001229861.1:p.Glu462Lys
NM_001289005.2:c.814G>A	NP_001275934.1:p.Glu272Lys