Canonical Allele Identifier: CA4655393
Community Standard Title: NM_000237.3(LPL):c.373G>A (p.Ala125Thr)
Gene: LPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951892G>A , CM000670.2:g.19951892G>A GRCh38
NC_000008.10:g.19809403G>A , CM000670.1:g.19809403G>A GRCh37
NC_000008.9:g.19853683G>A NCBI36
NG_008855.1:g.17822G>A
NG_008855.2:g.55176G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000237.3:c.373G>A MANE Select NP_000228.1:p.Ala125Thr
ENST00000650287.1:c.373G>A MANE Select ENSP00000497642.1:p.Ala125Thr
NM_000237.2:c.373G>A NP_000228.1:p.Ala125Thr
ENST00000311322.8:c.373G>A ENSP00000309757.6:p.Ala125Thr
ENST00000520959.5:c.145G>A ENSP00000428496.1:p.Ala49Thr
ENST00000524029.5:c.373G>A ENSP00000428237.1:p.Ala125Thr