Canonical Allele Identifier: CA4655478
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs118204072
gnomAD v2: 8-19811685-C-T
gnomAD v4: 8-19954174-C-T

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.596C>T MANE Select ENSP00000497642.1:p.Ser199Phe
ENST00000311322.8:c.596C>T ENSP00000309757.6:p.Ser199Phe
NM_000237.2:c.596C>T NP_000228.1:p.Ser199Phe
NM_000237.3:c.596C>T MANE Select NP_000228.1:p.Ser199Phe