Canonical Allele Identifier: CA379108910

Gene: LSP1

Linked Data

• gnomAD v4: 11-1887529-A-C
• MyVariant Identifiers: chr11:g.1908759A>C (hg19) ; chr11:g.1887529A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1887529A>C , CM000673.2:g.1887529A>C	GRCh38
NC_000011.9:g.1908759A>C , CM000673.1:g.1908759A>C	GRCh37
NC_000011.8:g.1865335A>C	NCBI36
NG_011509.1:g.39560A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311604.8:c.986A>C MANE Select	ENSP00000308383.4:p.Glu329Ala
ENST00000311604.7:c.986A>C	ENSP00000308383.3:p.Glu329Ala
ENST00000381775.5:c.1370A>C	ENSP00000371194.1:p.Glu457Ala
ENST00000405957.6:c.800A>C	ENSP00000383932.2:p.Glu267Ala
ENST00000406638.6:c.800A>C	ENSP00000384022.2:p.Glu267Ala
ENST00000472974.5:n.856A>C
ENST00000485341.5:n.1482A>C
ENST00000612798.4:c.800A>C	ENSP00000484140.1:p.Glu267Ala
NM_001013253.1:c.800A>C	NP_001013271.1:p.Glu267Ala
NM_001013254.1:c.800A>C	NP_001013272.1:p.Glu267Ala
NM_001013255.1:c.800A>C	NP_001013273.1:p.Glu267Ala
NM_001242932.1:c.1370A>C	NP_001229861.1:p.Glu457Ala
NM_001289005.1:c.800A>C	NP_001275934.1:p.Glu267Ala
NM_002339.2:c.986A>C	NP_002330.1:p.Glu329Ala
NM_001013253.2:c.800A>C	NP_001013271.1:p.Glu267Ala
NM_002339.3:c.986A>C MANE Select	NP_002330.1:p.Glu329Ala
NM_001242932.2:c.1370A>C	NP_001229861.1:p.Glu457Ala
NM_001289005.2:c.800A>C	NP_001275934.1:p.Glu267Ala