Canonical Allele Identifier: CA251891
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1554
ClinVar RCV Id: RCV000001619 RCV001039273
dbSNP Id: rs118204080
ExAC: 8:19811844 T / C
gnomAD v2: 8-19811844-T-C
gnomAD v4: 8-19954333-T-C
MyVariant Identifiers: chr8:g.19811844T>C (hg19) chr8:g.19954333T>C (hg38)
PubMed: PMID:9714430
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954333T>C , CM000670.2:g.19954333T>C GRCh38
NC_000008.10:g.19811844T>C , CM000670.1:g.19811844T>C GRCh37
NC_000008.9:g.19856124T>C NCBI36
NG_008855.1:g.20263T>C
NG_008855.2:g.57617T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.755T>C MANE Select ENSP00000497642.1:p.Ile252Thr
ENST00000311322.8:c.755T>C ENSP00000309757.6:p.Ile252Thr
NM_000237.2:c.755T>C NP_000228.1:p.Ile252Thr
NM_000237.3:c.755T>C MANE Select NP_000228.1:p.Ile252Thr
Search 100 bp 5'
Search 100 bp 3'