Canonical Allele Identifier: CA173618749

Gene: LPL

Linked Data

• dbSNP Id: rs889632936
• gnomAD v2: 8-19824414-G-A
• gnomAD v3: 8-19966903-G-A
• gnomAD v4: 8-19966903-G-A
• MyVariant Identifiers: chr8:g.19824414G>A (hg19) ; chr8:g.19966903G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19966903G>A , CM000670.2:g.19966903G>A	GRCh38
NC_000008.10:g.19824414G>A , CM000670.1:g.19824414G>A	GRCh37
NC_000008.9:g.19868694G>A	NCBI36
NG_008855.1:g.32833G>A
NG_008855.2:g.70187G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.*1593G>A MANE Select	ENSP00000497642.1:n.*1593G>A
ENST00000650478.1:c.1961G>A	ENSP00000497560.1:n.1961G>A
ENST00000311322.8:c.*1593G>A	ENSP00000309757.6:n.*1593G>A
NM_000237.2:c.*1593G>A	NP_000228.1:n.*1593G>A
NM_000237.3:c.*1593G>A MANE Select	NP_000228.1:n.*1593G>A