Canonical Allele Identifier: CA370468743
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1271680498
gnomAD v2: 8-19811846-G-A
gnomAD v4: 8-19954335-G-A
COSMIC: COSM4698596
MyVariant Identifiers: chr8:g.19811846G>A (hg19) chr8:g.19954335G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954335G>A , CM000670.2:g.19954335G>A GRCh38
NC_000008.10:g.19811846G>A , CM000670.1:g.19811846G>A GRCh37
NC_000008.9:g.19856126G>A NCBI36
NG_008855.1:g.20265G>A
NG_008855.2:g.57619G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.757G>A MANE Select ENSP00000497642.1:p.Ala253Thr
ENST00000311322.8:c.757G>A ENSP00000309757.6:p.Ala253Thr
NM_000237.2:c.757G>A NP_000228.1:p.Ala253Thr
NM_000237.3:c.757G>A MANE Select NP_000228.1:p.Ala253Thr
Search 100 bp 5'
Search 100 bp 3'