Canonical Allele Identifier: CA370468378

Gene: LPL

Linked Data

• gnomAD v4: 8-19954182-G-A
• MyVariant Identifiers: chr8:g.19811693G>A (hg19) ; chr8:g.19954182G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19954182G>A , CM000670.2:g.19954182G>A	GRCh38
NC_000008.10:g.19811693G>A , CM000670.1:g.19811693G>A	GRCh37
NC_000008.9:g.19855973G>A	NCBI36
NG_008855.1:g.20112G>A
NG_008855.2:g.57466G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.604G>A MANE Select	ENSP00000497642.1:p.Asp202Asn
ENST00000311322.8:c.604G>A	ENSP00000309757.6:p.Asp202Asn
NM_000237.2:c.604G>A	NP_000228.1:p.Asp202Asn
NM_000237.3:c.604G>A MANE Select	NP_000228.1:p.Asp202Asn