Canonical Allele Identifier: CA4655507
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs377128614
ExAC: 8:19811840 G / A
gnomAD v2: 8-19811840-G-A
gnomAD v3: 8-19954329-G-A
gnomAD v4: 8-19954329-G-A
COSMIC: COSM3898687
MyVariant Identifiers: chr8:g.19811840G>A (hg19) chr8:g.19954329G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954329G>A , CM000670.2:g.19954329G>A GRCh38
NC_000008.10:g.19811840G>A , CM000670.1:g.19811840G>A GRCh37
NC_000008.9:g.19856120G>A NCBI36
NG_008855.1:g.20259G>A
NG_008855.2:g.57613G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.751G>A MANE Select ENSP00000497642.1:p.Val251Met
ENST00000311322.8:c.751G>A ENSP00000309757.6:p.Val251Met
NM_000237.2:c.751G>A NP_000228.1:p.Val251Met
NM_000237.3:c.751G>A MANE Select NP_000228.1:p.Val251Met
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