Canonical Allele Identifier: CA379108852
Gene: LSP1 HGNC NCBI

Linked Data

gnomAD v4: 11-1887502-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1887502T>C , CM000673.2:g.1887502T>C GRCh38
NC_000011.9:g.1908732T>C , CM000673.1:g.1908732T>C GRCh37
NC_000011.8:g.1865308T>C NCBI36
NG_011509.1:g.39533T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311604.8:c.959T>C MANE Select ENSP00000308383.4:p.Phe320Ser
ENST00000311604.7:c.959T>C ENSP00000308383.3:p.Phe320Ser
ENST00000381775.5:c.1343T>C ENSP00000371194.1:p.Phe448Ser
ENST00000405957.6:c.773T>C ENSP00000383932.2:p.Phe258Ser
ENST00000406638.6:c.773T>C ENSP00000384022.2:p.Phe258Ser
ENST00000472974.5:n.829T>C
ENST00000484895.5:n.436T>C
ENST00000485341.5:n.1455T>C
ENST00000612798.4:c.773T>C ENSP00000484140.1:p.Phe258Ser
NM_001013253.1:c.773T>C NP_001013271.1:p.Phe258Ser
NM_001013254.1:c.773T>C NP_001013272.1:p.Phe258Ser
NM_001013255.1:c.773T>C NP_001013273.1:p.Phe258Ser
NM_001242932.1:c.1343T>C NP_001229861.1:p.Phe448Ser
NM_001289005.1:c.773T>C NP_001275934.1:p.Phe258Ser
NM_002339.2:c.959T>C NP_002330.1:p.Phe320Ser
NM_001013253.2:c.773T>C NP_001013271.1:p.Phe258Ser
NM_002339.3:c.959T>C MANE Select NP_002330.1:p.Phe320Ser
NM_001242932.2:c.1343T>C NP_001229861.1:p.Phe448Ser
NM_001289005.2:c.773T>C NP_001275934.1:p.Phe258Ser