Canonical Allele Identifier: CA379108847
Gene: LSP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1887500G>T , CM000673.2:g.1887500G>T GRCh38
NC_000011.9:g.1908730G>T , CM000673.1:g.1908730G>T GRCh37
NC_000011.8:g.1865306G>T NCBI36
NG_011509.1:g.39531G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311604.8:c.957G>T MANE Select ENSP00000308383.4:p.Lys319Asn
ENST00000311604.7:c.957G>T ENSP00000308383.3:p.Lys319Asn
ENST00000381775.5:c.1341G>T ENSP00000371194.1:p.Lys447Asn
ENST00000405957.6:c.771G>T ENSP00000383932.2:p.Lys257Asn
ENST00000406638.6:c.771G>T ENSP00000384022.2:p.Lys257Asn
ENST00000472974.5:n.827G>T
ENST00000484895.5:n.434G>T
ENST00000485341.5:n.1453G>T
ENST00000612798.4:c.771G>T ENSP00000484140.1:p.Lys257Asn
NM_001013253.1:c.771G>T NP_001013271.1:p.Lys257Asn
NM_001013254.1:c.771G>T NP_001013272.1:p.Lys257Asn
NM_001013255.1:c.771G>T NP_001013273.1:p.Lys257Asn
NM_001242932.1:c.1341G>T NP_001229861.1:p.Lys447Asn
NM_001289005.1:c.771G>T NP_001275934.1:p.Lys257Asn
NM_002339.2:c.957G>T NP_002330.1:p.Lys319Asn
NM_001013253.2:c.771G>T NP_001013271.1:p.Lys257Asn
NM_002339.3:c.957G>T MANE Select NP_002330.1:p.Lys319Asn
NM_001242932.2:c.1341G>T NP_001229861.1:p.Lys447Asn
NM_001289005.2:c.771G>T NP_001275934.1:p.Lys257Asn