Canonical Allele Identifier: CA216220587
Gene: LSP1 HGNC NCBI

Linked Data

dbSNP Id: rs916443514
gnomAD v3: 11-1887840-T-C
gnomAD v4: 11-1887840-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1887840T>C , CM000673.2:g.1887840T>C GRCh38
NC_000011.9:g.1909070T>C , CM000673.1:g.1909070T>C GRCh37
NC_000011.8:g.1865646T>C NCBI36
NG_011509.1:g.39871T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000311604.8:c.*13+264T>C MANE Select ENSP00000308383.4:n.*13+264T>C
ENST00000311604.7:c.*13+264T>C ENSP00000308383.3:n.*13+264T>C
ENST00000381775.5:c.*13+264T>C ENSP00000371194.1:n.*13+264T>C
ENST00000405957.6:c.*13+264T>C ENSP00000383932.2:n.*13+264T>C
ENST00000406638.6:c.*13+264T>C ENSP00000384022.2:n.*13+264T>C
ENST00000485341.5:n.1529+264T>C
ENST00000612798.4:c.*13+264T>C ENSP00000484140.1:n.*13+264T>C
NM_001013253.1:c.*13+264T>C NP_001013271.1:n.*13+264T>C
NM_001013254.1:c.*13+264T>C NP_001013272.1:n.*13+264T>C
NM_001013255.1:c.*13+264T>C NP_001013273.1:n.*13+264T>C
NM_001242932.1:c.*13+264T>C NP_001229861.1:n.*13+264T>C
NM_001289005.1:c.*13+264T>C NP_001275934.1:n.*13+264T>C
NM_002339.2:c.*13+264T>C NP_002330.1:n.*13+264T>C
NM_001013253.2:c.*13+264T>C NP_001013271.1:n.*13+264T>C
NM_002339.3:c.*13+264T>C MANE Select NP_002330.1:n.*13+264T>C
NM_001242932.2:c.*13+264T>C NP_001229861.1:n.*13+264T>C
NM_001289005.2:c.*13+264T>C NP_001275934.1:n.*13+264T>C