Canonical Allele Identifier: CA216220583
Gene: LSP1 HGNC NCBI

Linked Data

dbSNP Id: rs973211889
gnomAD v3: 11-1887836-C-A
gnomAD v4: 11-1887836-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1887836C>A , CM000673.2:g.1887836C>A GRCh38
NC_000011.9:g.1909066C>A , CM000673.1:g.1909066C>A GRCh37
NC_000011.8:g.1865642C>A NCBI36
NG_011509.1:g.39867C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000311604.8:c.*13+260C>A MANE Select ENSP00000308383.4:n.*13+260C>A
ENST00000311604.7:c.*13+260C>A ENSP00000308383.3:n.*13+260C>A
ENST00000381775.5:c.*13+260C>A ENSP00000371194.1:n.*13+260C>A
ENST00000405957.6:c.*13+260C>A ENSP00000383932.2:n.*13+260C>A
ENST00000406638.6:c.*13+260C>A ENSP00000384022.2:n.*13+260C>A
ENST00000485341.5:n.1529+260C>A
ENST00000612798.4:c.*13+260C>A ENSP00000484140.1:n.*13+260C>A
NM_001013253.1:c.*13+260C>A NP_001013271.1:n.*13+260C>A
NM_001013254.1:c.*13+260C>A NP_001013272.1:n.*13+260C>A
NM_001013255.1:c.*13+260C>A NP_001013273.1:n.*13+260C>A
NM_001242932.1:c.*13+260C>A NP_001229861.1:n.*13+260C>A
NM_001289005.1:c.*13+260C>A NP_001275934.1:n.*13+260C>A
NM_002339.2:c.*13+260C>A NP_002330.1:n.*13+260C>A
NM_001013253.2:c.*13+260C>A NP_001013271.1:n.*13+260C>A
NM_002339.3:c.*13+260C>A MANE Select NP_002330.1:n.*13+260C>A
NM_001242932.2:c.*13+260C>A NP_001229861.1:n.*13+260C>A
NM_001289005.2:c.*13+260C>A NP_001275934.1:n.*13+260C>A