Canonical Allele Identifier: CA4655385
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 719805
ClinVar RCV Id: RCV000893020 RCV001160570 RCV002454069 RCV003323758
dbSNP Id: rs147309575
ExAC: 8:19809375 A / C
gnomAD v2: 8-19809375-A-C
gnomAD v3: 8-19951864-A-C
gnomAD v4: 8-19951864-A-C
MyVariant Identifiers: chr8:g.19809375A>C (hg19) chr8:g.19951864A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951864A>C , CM000670.2:g.19951864A>C GRCh38
NC_000008.10:g.19809375A>C , CM000670.1:g.19809375A>C GRCh37
NC_000008.9:g.19853655A>C NCBI36
NG_008855.1:g.17794A>C
NG_008855.2:g.55148A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.345A>C MANE Select ENSP00000497642.1:p.Ser115=
ENST00000311322.8:c.345A>C ENSP00000309757.6:p.Ser115=
ENST00000520959.5:c.117A>C ENSP00000428496.1:p.Ser39=
ENST00000524029.5:c.345A>C ENSP00000428237.1:p.Ser115=
NM_000237.2:c.345A>C NP_000228.1:p.Ser115=
NM_000237.3:c.345A>C MANE Select NP_000228.1:p.Ser115=
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