Canonical Allele Identifier: CA173618706

Gene: LPL

Linked Data

• dbSNP Id: rs544134518
• gnomAD v2: 8-19824153-T-A
• gnomAD v3: 8-19966642-T-A
• gnomAD v4: 8-19966642-T-A
• MyVariant Identifiers: chr8:g.19824153T>A (hg19) ; chr8:g.19966642T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19966642T>A , CM000670.2:g.19966642T>A	GRCh38
NC_000008.10:g.19824153T>A , CM000670.1:g.19824153T>A	GRCh37
NC_000008.9:g.19868433T>A	NCBI36
NG_008855.1:g.32572T>A
NG_008855.2:g.69926T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.*1332T>A MANE Select	ENSP00000497642.1:n.*1332T>A
ENST00000650478.1:c.1700T>A	ENSP00000497560.1:n.1700T>A
ENST00000311322.8:c.*1332T>A	ENSP00000309757.6:n.*1332T>A
NM_000237.2:c.*1332T>A	NP_000228.1:n.*1332T>A
NM_000237.3:c.*1332T>A MANE Select	NP_000228.1:n.*1332T>A