Canonical Allele Identifier: CA459879294
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1095459
ClinVar RCV Id: RCV001416359
dbSNP Id: rs2128838147
MyVariant Identifiers: chr8:g.19811638T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954127T>C , CM000670.2:g.19954127T>C GRCh38
NC_000008.10:g.19811638T>C , CM000670.1:g.19811638T>C GRCh37
NC_000008.9:g.19855918T>C NCBI36
NG_008855.1:g.20057T>C
NG_008855.2:g.57411T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.549T>C MANE Select ENSP00000497642.1:p.Asp183=
ENST00000311322.8:c.549T>C ENSP00000309757.6:p.Asp183=
ENST00000520959.5:c.321T>C ENSP00000428496.1:p.Asp107=
NM_000237.2:c.549T>C NP_000228.1:p.Asp183=
NM_000237.3:c.549T>C MANE Select NP_000228.1:p.Asp183=