Canonical Allele Identifier: CA173377759

Gene: LPL

Linked Data

• dbSNP Id: rs147908401
• gnomAD v2: 8-19812119-G-C
• gnomAD v3: 8-19954608-G-C
• gnomAD v4: 8-19954608-G-C
• MyVariant Identifiers: chr8:g.19812119G>C (hg19) ; chr8:g.19954608G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19954608G>C , CM000670.2:g.19954608G>C	GRCh38
NC_000008.10:g.19812119G>C , CM000670.1:g.19812119G>C	GRCh37
NC_000008.9:g.19856399G>C	NCBI36
NG_008855.1:g.20538G>C
NG_008855.2:g.57892G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.775+255G>C MANE Select	ENSP00000497642.1:n.775+255G>C
ENST00000311322.8:c.775+255G>C	ENSP00000309757.6:n.775+255G>C
NM_000237.2:c.775+255G>C	NP_000228.1:n.775+255G>C
NM_000237.3:c.775+255G>C MANE Select	NP_000228.1:n.775+255G>C