Canonical Allele Identifier: CA370468545
Gene: LPL HGNC NCBI

Linked Data

gnomAD v4: 8-19954261-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954261G>A , CM000670.2:g.19954261G>A GRCh38
NC_000008.10:g.19811772G>A , CM000670.1:g.19811772G>A GRCh37
NC_000008.9:g.19856052G>A NCBI36
NG_008855.1:g.20191G>A
NG_008855.2:g.57545G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.683G>A MANE Select ENSP00000497642.1:p.Gly228Glu
ENST00000311322.8:c.683G>A ENSP00000309757.6:p.Gly228Glu
NM_000237.2:c.683G>A NP_000228.1:p.Gly228Glu
NM_000237.3:c.683G>A MANE Select NP_000228.1:p.Gly228Glu