Canonical Allele Identifier: CA173371087

Gene: LPL

Linked Data

• ClinVar Variation Id: 1149017
• ClinVar RCV Id: RCV001489097
• dbSNP Id: rs962085823
• gnomAD v3: 8-19939449-C-T
• gnomAD v4: 8-19939449-C-T
• MyVariant Identifiers: chr8:g.19796960C>T (hg19) ; chr8:g.19939449C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19939449C>T , CM000670.2:g.19939449C>T	GRCh38
NC_000008.10:g.19796960C>T , CM000670.1:g.19796960C>T	GRCh37
NC_000008.9:g.19841240C>T	NCBI36
NG_008855.1:g.5379C>T
NG_008855.2:g.42733C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.9C>T MANE Select	ENSP00000497642.1:p.Ser3=
ENST00000311322.8:c.9C>T	ENSP00000309757.6:p.Ser3=
ENST00000519773.1:c.9C>T	ENSP00000431028.1:p.Ser3=
ENST00000520959.5:c.-140-8731C>T	ENSP00000428496.1:n.-140-8731C>T
ENST00000521994.1:n.194C>T
ENST00000522701.5:c.9C>T	ENSP00000428557.1:p.Ser3=
ENST00000523696.1:n.78C>T
ENST00000524029.5:c.9C>T	ENSP00000428237.1:p.Ser3=
NM_000237.2:c.9C>T	NP_000228.1:p.Ser3=
NM_000237.3:c.9C>T MANE Select	NP_000228.1:p.Ser3=