Canonical Allele Identifier: CA370468257

Gene: LPL

Linked Data

• gnomAD v4: 8-19954120-G-T
• MyVariant Identifiers: chr8:g.19811631G>T (hg19) ; chr8:g.19954120G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19954120G>T , CM000670.2:g.19954120G>T	GRCh38
NC_000008.10:g.19811631G>T , CM000670.1:g.19811631G>T	GRCh37
NC_000008.9:g.19855911G>T	NCBI36
NG_008855.1:g.20050G>T
NG_008855.2:g.57404G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.542G>T MANE Select	ENSP00000497642.1:p.Gly181Val
ENST00000311322.8:c.542G>T	ENSP00000309757.6:p.Gly181Val
ENST00000520959.5:c.314G>T	ENSP00000428496.1:p.Gly105Val
NM_000237.2:c.542G>T	NP_000228.1:p.Gly181Val
NM_000237.3:c.542G>T MANE Select	NP_000228.1:p.Gly181Val