Canonical Allele Identifier: CA251887
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1550
dbSNP Id: rs268

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19956018A>G , CM000670.2:g.19956018A>G GRCh38
NC_000008.10:g.19813529A>G , CM000670.1:g.19813529A>G GRCh37
NC_000008.9:g.19857809A>G NCBI36
NG_008855.1:g.21948A>G
NG_008855.2:g.59302A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.953A>G MANE Select ENSP00000497642.1:p.Asn318Ser
ENST00000650478.1:n.14A>G ENSP00000497560.1:p.Asn5Ser
ENST00000311322.8:c.953A>G ENSP00000309757.6:p.Asn318Ser
NM_000237.2:c.953A>G NP_000228.1:p.Asn318Ser
NM_000237.3:c.953A>G MANE Select NP_000228.1:p.Asn318Ser