Canonical Allele Identifier: CA580158088

Gene: LPL

Linked Data

• dbSNP Id: rs1270969603
• gnomAD v2: 8-19815103-C-T
• gnomAD v3: 8-19957592-C-T
• gnomAD v4: 8-19957592-C-T
• MyVariant Identifiers: chr8:g.19815103C>T (hg19) ; chr8:g.19957592C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19957592C>T , CM000670.2:g.19957592C>T	GRCh38
NC_000008.10:g.19815103C>T , CM000670.1:g.19815103C>T	GRCh37
NC_000008.9:g.19859383C>T	NCBI36
NG_008855.1:g.23522C>T
NG_008855.2:g.60876C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.1018+1509C>T MANE Select	ENSP00000497642.1:n.1018+1509C>T
ENST00000650478.1:c.79+1509C>T	ENSP00000497560.1:n.79+1509C>T
ENST00000311322.8:c.1018+1509C>T	ENSP00000309757.6:n.1018+1509C>T
NM_000237.2:c.1018+1509C>T	NP_000228.1:n.1018+1509C>T
NM_000237.3:c.1018+1509C>T MANE Select	NP_000228.1:n.1018+1509C>T