Canonical Allele Identifier: CA4655509
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs755601354
gnomAD v2: 8-19811858-C-T
gnomAD v3: 8-19954347-C-T
gnomAD v4: 8-19954347-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954347C>T , CM000670.2:g.19954347C>T GRCh38
NC_000008.10:g.19811858C>T , CM000670.1:g.19811858C>T GRCh37
NC_000008.9:g.19856138C>T NCBI36
NG_008855.1:g.20277C>T
NG_008855.2:g.57631C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.769C>T MANE Select ENSP00000497642.1:p.Leu257Phe
ENST00000311322.8:c.769C>T ENSP00000309757.6:p.Leu257Phe
NM_000237.2:c.769C>T NP_000228.1:p.Leu257Phe
NM_000237.3:c.769C>T MANE Select NP_000228.1:p.Leu257Phe