Canonical Allele Identifier: CA459879355
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1538020
ClinVar RCV Id: RCV002159626
dbSNP Id: rs2128838157
MyVariant Identifiers: chr8:g.19811671C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954160C>T , CM000670.2:g.19954160C>T GRCh38
NC_000008.10:g.19811671C>T , CM000670.1:g.19811671C>T GRCh37
NC_000008.9:g.19855951C>T NCBI36
NG_008855.1:g.20090C>T
NG_008855.2:g.57444C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.582C>T MANE Select ENSP00000497642.1:p.Ala194=
ENST00000311322.8:c.582C>T ENSP00000309757.6:p.Ala194=
NM_000237.2:c.582C>T NP_000228.1:p.Ala194=
NM_000237.3:c.582C>T MANE Select NP_000228.1:p.Ala194=
Search 100 bp 5'
Search 100 bp 3'