Canonical Allele Identifier: CA173377568
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs905583712
gnomAD v3: 8-19954317-G-A
gnomAD v4: 8-19954317-G-A
MyVariant Identifiers: chr8:g.19811828G>A (hg19) chr8:g.19954317G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954317G>A , CM000670.2:g.19954317G>A GRCh38
NC_000008.10:g.19811828G>A , CM000670.1:g.19811828G>A GRCh37
NC_000008.9:g.19856108G>A NCBI36
NG_008855.1:g.20247G>A
NG_008855.2:g.57601G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.739G>A MANE Select ENSP00000497642.1:p.Glu247Lys
ENST00000311322.8:c.739G>A ENSP00000309757.6:p.Glu247Lys
NM_000237.2:c.739G>A NP_000228.1:p.Glu247Lys
NM_000237.3:c.739G>A MANE Select NP_000228.1:p.Glu247Lys
Search 100 bp 5'
Search 100 bp 3'