Canonical Allele Identifier: CA370464611

Gene: LPL

Linked Data

• dbSNP Id: rs1208045265
• gnomAD v2: 8-19796964-G-A
• gnomAD v4: 8-19939453-G-A
• MyVariant Identifiers: chr8:g.19796964G>A (hg19) ; chr8:g.19939453G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19939453G>A , CM000670.2:g.19939453G>A	GRCh38
NC_000008.10:g.19796964G>A , CM000670.1:g.19796964G>A	GRCh37
NC_000008.9:g.19841244G>A	NCBI36
NG_008855.1:g.5383G>A
NG_008855.2:g.42737G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.13G>A MANE Select	ENSP00000497642.1:p.Ala5Thr
ENST00000311322.8:c.13G>A	ENSP00000309757.6:p.Ala5Thr
ENST00000519773.1:c.13G>A	ENSP00000431028.1:p.Ala5Thr
ENST00000520959.5:c.-140-8727G>A	ENSP00000428496.1:n.-140-8727G>A
ENST00000521994.1:n.198G>A
ENST00000522701.5:c.13G>A	ENSP00000428557.1:p.Ala5Thr
ENST00000523696.1:n.82G>A
ENST00000524029.5:c.13G>A	ENSP00000428237.1:p.Ala5Thr
NM_000237.2:c.13G>A	NP_000228.1:p.Ala5Thr
NM_000237.3:c.13G>A MANE Select	NP_000228.1:p.Ala5Thr