Canonical Allele Identifier: CA370468583

Gene: LPL

Linked Data

• gnomAD v4: 8-19954279-C-A
• MyVariant Identifiers: chr8:g.19811790C>A (hg19) ; chr8:g.19954279C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19954279C>A , CM000670.2:g.19954279C>A	GRCh38
NC_000008.10:g.19811790C>A , CM000670.1:g.19811790C>A	GRCh37
NC_000008.9:g.19856070C>A	NCBI36
NG_008855.1:g.20209C>A
NG_008855.2:g.57563C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.701C>A MANE Select	ENSP00000497642.1:p.Pro234Gln
ENST00000311322.8:c.701C>A	ENSP00000309757.6:p.Pro234Gln
NM_000237.2:c.701C>A	NP_000228.1:p.Pro234Gln
NM_000237.3:c.701C>A MANE Select	NP_000228.1:p.Pro234Gln