Canonical Allele Identifier: CA370468260
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1186242076
gnomAD v2: 8-19811633-C-T
gnomAD v4: 8-19954122-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954122C>T , CM000670.2:g.19954122C>T GRCh38
NC_000008.10:g.19811633C>T , CM000670.1:g.19811633C>T GRCh37
NC_000008.9:g.19855913C>T NCBI36
NG_008855.1:g.20052C>T
NG_008855.2:g.57406C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.544C>T MANE Select ENSP00000497642.1:p.Leu182Phe
ENST00000311322.8:c.544C>T ENSP00000309757.6:p.Leu182Phe
ENST00000520959.5:c.316C>T ENSP00000428496.1:p.Leu106Phe
NM_000237.2:c.544C>T NP_000228.1:p.Leu182Phe
NM_000237.3:c.544C>T MANE Select NP_000228.1:p.Leu182Phe