Canonical Allele Identifier: CA173378969
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19957595T>C
GRCh37 chr8:g.19815106T>C
gnomAD v2:
8:19815106 T / C
gnomAD v3:
8:19957595 T / C
gnomAD v4:
chr8-19957595-T-C
Joint Max Group AF 0.13295952 (AFR)
Genomes Max Group AF 0.13295952 (AFR)
dbSNP:
284
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19957595T>C , CM000670.2:g.19957595T>C GRCh38
NC_000008.10:g.19815106T>C , CM000670.1:g.19815106T>C GRCh37
NC_000008.9:g.19859386T>C NCBI36
NG_008855.1:g.23525T>C
NG_008855.2:g.60879T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1018+1512T>C MANE Select ENSP00000497642.1:n.1018+1512T>C
ENST00000650478.1:c.79+1512T>C ENSP00000497560.1:n.79+1512T>C
ENST00000311322.8:c.1018+1512T>C ENSP00000309757.6:n.1018+1512T>C
NM_000237.2:c.1018+1512T>C NP_000228.1:n.1018+1512T>C
NM_000237.3:c.1018+1512T>C MANE Select NP_000228.1:n.1018+1512T>C
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