Canonical Allele Identifier: CA5815881
Gene: LSP1 HGNC NCBI

Linked Data

dbSNP Id: rs147310705
gnomAD v2: 11-1908774-A-T
gnomAD v3: 11-1887544-A-T
gnomAD v4: 11-1887544-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1887544A>T , CM000673.2:g.1887544A>T GRCh38
NC_000011.9:g.1908774A>T , CM000673.1:g.1908774A>T GRCh37
NC_000011.8:g.1865350A>T NCBI36
NG_011509.1:g.39575A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311604.8:c.1001A>T MANE Select ENSP00000308383.4:p.Glu334Val
ENST00000311604.7:c.1001A>T ENSP00000308383.3:p.Glu334Val
ENST00000381775.5:c.1385A>T ENSP00000371194.1:p.Glu462Val
ENST00000405957.6:c.815A>T ENSP00000383932.2:p.Glu272Val
ENST00000406638.6:c.815A>T ENSP00000384022.2:p.Glu272Val
ENST00000472974.5:n.871A>T
ENST00000485341.5:n.1497A>T
ENST00000612798.4:c.815A>T ENSP00000484140.1:p.Glu272Val
NM_001013253.1:c.815A>T NP_001013271.1:p.Glu272Val
NM_001013254.1:c.815A>T NP_001013272.1:p.Glu272Val
NM_001013255.1:c.815A>T NP_001013273.1:p.Glu272Val
NM_001242932.1:c.1385A>T NP_001229861.1:p.Glu462Val
NM_001289005.1:c.815A>T NP_001275934.1:p.Glu272Val
NM_002339.2:c.1001A>T NP_002330.1:p.Glu334Val
NM_001013253.2:c.815A>T NP_001013271.1:p.Glu272Val
NM_002339.3:c.1001A>T MANE Select NP_002330.1:p.Glu334Val
NM_001242932.2:c.1385A>T NP_001229861.1:p.Glu462Val
NM_001289005.2:c.815A>T NP_001275934.1:p.Glu272Val