Canonical Allele Identifier: CA459879620
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs2128838517
gnomAD v4: 8-19955941-T-C
MyVariant Identifiers: chr8:g.19813452T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955941T>C , CM000670.2:g.19955941T>C GRCh38
NC_000008.10:g.19813452T>C , CM000670.1:g.19813452T>C GRCh37
NC_000008.9:g.19857732T>C NCBI36
NG_008855.1:g.21871T>C
NG_008855.2:g.59225T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.876T>C MANE Select ENSP00000497642.1:p.Ser292=
ENST00000311322.8:c.876T>C ENSP00000309757.6:p.Ser292=
NM_000237.2:c.876T>C NP_000228.1:p.Ser292=
NM_000237.3:c.876T>C MANE Select NP_000228.1:p.Ser292=