Canonical Allele Identifier: CA459879552
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2764039
ClinVar RCV Id: RCV003572325
gnomAD v4: 8-19954346-A-C
MyVariant Identifiers: chr8:g.19811857A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954346A>C , CM000670.2:g.19954346A>C GRCh38
NC_000008.10:g.19811857A>C , CM000670.1:g.19811857A>C GRCh37
NC_000008.9:g.19856137A>C NCBI36
NG_008855.1:g.20276A>C
NG_008855.2:g.57630A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.768A>C MANE Select ENSP00000497642.1:p.Gly256=
ENST00000311322.8:c.768A>C ENSP00000309757.6:p.Gly256=
NM_000237.2:c.768A>C NP_000228.1:p.Gly256=
NM_000237.3:c.768A>C MANE Select NP_000228.1:p.Gly256=
Search 100 bp 5'
Search 100 bp 3'