Canonical Allele Identifier: CA370469290
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1489499895
gnomAD v3: 8-19956005-G-A
gnomAD v4: 8-19956005-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19956005G>A , CM000670.2:g.19956005G>A GRCh38
NC_000008.10:g.19813516G>A , CM000670.1:g.19813516G>A GRCh37
NC_000008.9:g.19857796G>A NCBI36
NG_008855.1:g.21935G>A
NG_008855.2:g.59289G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.940G>A MANE Select ENSP00000497642.1:p.Gly314Ser
ENST00000650478.1:c.1G>A ENSP00000497560.1:p.Gly1Ser
ENST00000311322.8:c.940G>A ENSP00000309757.6:p.Gly314Ser
NM_000237.2:c.940G>A NP_000228.1:p.Gly314Ser
NM_000237.3:c.940G>A MANE Select NP_000228.1:p.Gly314Ser