Canonical Allele Identifier: CA370468368
Gene: LPL HGNC NCBI

Linked Data

gnomAD v4: 8-19954177-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954177C>A , CM000670.2:g.19954177C>A GRCh38
NC_000008.10:g.19811688C>A , CM000670.1:g.19811688C>A GRCh37
NC_000008.9:g.19855968C>A NCBI36
NG_008855.1:g.20107C>A
NG_008855.2:g.57461C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.599C>A MANE Select ENSP00000497642.1:p.Pro200His
ENST00000311322.8:c.599C>A ENSP00000309757.6:p.Pro200His
NM_000237.2:c.599C>A NP_000228.1:p.Pro200His
NM_000237.3:c.599C>A MANE Select NP_000228.1:p.Pro200His