Canonical Allele Identifier: CA10627427
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19967052T>C
GRCh37 chr8:g.19824563T>C
gnomAD v2:
8:19824563 T / C
gnomAD v3:
8:19967052 T / C
gnomAD v4:
chr8-19967052-T-C
Joint Max Group AF 0.17941675 (AFR)
Genomes Max Group AF 0.17941675 (AFR)
ClinVar RCV:
RCV000277765
RCV001519439
ClinVar Variation:
362448
dbSNP:
1059611
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19967052T>C , CM000670.2:g.19967052T>C GRCh38
NC_000008.10:g.19824563T>C , CM000670.1:g.19824563T>C GRCh37
NC_000008.9:g.19868843T>C NCBI36
NG_008855.1:g.32982T>C
NG_008855.2:g.70336T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.*1742T>C MANE Select ENSP00000497642.1:n.*1742T>C
ENST00000650478.1:c.2110T>C ENSP00000497560.1:n.2110T>C
ENST00000311322.8:c.*1742T>C ENSP00000309757.6:n.*1742T>C
NM_000237.2:c.*1742T>C NP_000228.1:n.*1742T>C
NM_000237.3:c.*1742T>C MANE Select NP_000228.1:n.*1742T>C
Search 100 bp 5'
Search 100 bp 3'