Canonical Allele Identifier: CA370638549
Gene: LPL HGNC NCBI

Linked Data

gnomAD v4: 8-19960915-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19960915C>A , CM000670.2:g.19960915C>A GRCh38
NC_000008.10:g.19818426C>A , CM000670.1:g.19818426C>A GRCh37
NC_000008.9:g.19862706C>A NCBI36
NG_008855.1:g.26845C>A
NG_008855.2:g.64199C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1154C>A MANE Select ENSP00000497642.1:p.Thr385Lys
ENST00000650478.1:c.94C>A ENSP00000497560.1:p.Gln32Lys
ENST00000311322.8:c.1154C>A ENSP00000309757.6:p.Thr385Lys
NM_000237.2:c.1154C>A NP_000228.1:p.Thr385Lys
NM_000237.3:c.1154C>A MANE Select NP_000228.1:p.Thr385Lys