Canonical Allele Identifier: CA370468347
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1171454451
gnomAD v3: 8-19954164-A-G
gnomAD v4: 8-19954164-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954164A>G , CM000670.2:g.19954164A>G GRCh38
NC_000008.10:g.19811675A>G , CM000670.1:g.19811675A>G GRCh37
NC_000008.9:g.19855955A>G NCBI36
NG_008855.1:g.20094A>G
NG_008855.2:g.57448A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.586A>G MANE Select ENSP00000497642.1:p.Ser196Gly
ENST00000311322.8:c.586A>G ENSP00000309757.6:p.Ser196Gly
NM_000237.2:c.586A>G NP_000228.1:p.Ser196Gly
NM_000237.3:c.586A>G MANE Select NP_000228.1:p.Ser196Gly