Canonical Allele Identifier: CA4655482
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1081588
ClinVar RCV Id: RCV001397642 RCV002368249 RCV003973234
dbSNP Id: rs118204076
ExAC: 8:19811710 C / T
gnomAD v2: 8-19811710-C-T
gnomAD v3: 8-19954199-C-T
gnomAD v4: 8-19954199-C-T
COSMIC: COSM3995970
MyVariant Identifiers: chr8:g.19811710C>T (hg19) chr8:g.19954199C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954199C>T , CM000670.2:g.19954199C>T GRCh38
NC_000008.10:g.19811710C>T , CM000670.1:g.19811710C>T GRCh37
NC_000008.9:g.19855990C>T NCBI36
NG_008855.1:g.20129C>T
NG_008855.2:g.57483C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.621C>T MANE Select ENSP00000497642.1:p.Asp207=
ENST00000311322.8:c.621C>T ENSP00000309757.6:p.Asp207=
NM_000237.2:c.621C>T NP_000228.1:p.Asp207=
NM_000237.3:c.621C>T MANE Select NP_000228.1:p.Asp207=
Search 100 bp 5'
Search 100 bp 3'