Canonical Allele Identifier: CA370467578

Gene: LPL

Linked Data

• dbSNP Id: rs2069937173
• gnomAD v4: 8-19951853-G-A
• MyVariant Identifiers: chr8:g.19809364G>A (hg19) ; chr8:g.19951853G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951853G>A , CM000670.2:g.19951853G>A	GRCh38
NC_000008.10:g.19809364G>A , CM000670.1:g.19809364G>A	GRCh37
NC_000008.9:g.19853644G>A	NCBI36
NG_008855.1:g.17783G>A
NG_008855.2:g.55137G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.334G>A MANE Select	ENSP00000497642.1:p.Asp112Asn
ENST00000311322.8:c.334G>A	ENSP00000309757.6:p.Asp112Asn
ENST00000520959.5:c.106G>A	ENSP00000428496.1:p.Asp36Asn
ENST00000524029.5:c.334G>A	ENSP00000428237.1:p.Asp112Asn
NM_000237.2:c.334G>A	NP_000228.1:p.Asp112Asn
NM_000237.3:c.334G>A MANE Select	NP_000228.1:p.Asp112Asn