Canonical Allele Identifier: CA370468365
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs118204072

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954174C>A , CM000670.2:g.19954174C>A GRCh38
NC_000008.10:g.19811685C>A , CM000670.1:g.19811685C>A GRCh37
NC_000008.9:g.19855965C>A NCBI36
NG_008855.1:g.20104C>A
NG_008855.2:g.57458C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.596C>A MANE Select ENSP00000497642.1:p.Ser199Tyr
ENST00000311322.8:c.596C>A ENSP00000309757.6:p.Ser199Tyr
NM_000237.2:c.596C>A NP_000228.1:p.Ser199Tyr
NM_000237.3:c.596C>A MANE Select NP_000228.1:p.Ser199Tyr