Canonical Allele Identifier: CA370467550
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 978273
ClinVar RCV Id: RCV001256679
dbSNP Id: rs1274719866
gnomAD v2: 8-19809350-A-G
gnomAD v4: 8-19951839-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951839A>G , CM000670.2:g.19951839A>G GRCh38
NC_000008.10:g.19809350A>G , CM000670.1:g.19809350A>G GRCh37
NC_000008.9:g.19853630A>G NCBI36
NG_008855.1:g.17769A>G
NG_008855.2:g.55123A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.320A>G MANE Select ENSP00000497642.1:p.Asn107Ser
ENST00000311322.8:c.320A>G ENSP00000309757.6:p.Asn107Ser
ENST00000520959.5:c.92A>G ENSP00000428496.1:p.Asn31Ser
ENST00000524029.5:c.320A>G ENSP00000428237.1:p.Asn107Ser
NM_000237.2:c.320A>G NP_000228.1:p.Asn107Ser
NM_000237.3:c.320A>G MANE Select NP_000228.1:p.Asn107Ser