Canonical Allele Identifier: CA370468356

Gene: LPL

Linked Data

• gnomAD v4: 8-19954168-G-C
• MyVariant Identifiers: chr8:g.19811679G>C (hg19) ; chr8:g.19954168G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19954168G>C , CM000670.2:g.19954168G>C	GRCh38
NC_000008.10:g.19811679G>C , CM000670.1:g.19811679G>C	GRCh37
NC_000008.9:g.19855959G>C	NCBI36
NG_008855.1:g.20098G>C
NG_008855.2:g.57452G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.590G>C MANE Select	ENSP00000497642.1:p.Arg197Pro
ENST00000311322.8:c.590G>C	ENSP00000309757.6:p.Arg197Pro
NM_000237.2:c.590G>C	NP_000228.1:p.Arg197Pro
NM_000237.3:c.590G>C MANE Select	NP_000228.1:p.Arg197Pro