Canonical Allele Identifier: CA12903534
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19962894G>A
GRCh37 chr8:g.19820405G>A
gnomAD v2:
8:19820405 G / A
gnomAD v3:
8:19962894 G / A
gnomAD v4:
chr8-19962894-G-A
Joint Max Group AF 0.37127172 (AFR)
Genomes Max Group AF 0.37127172 (AFR)
dbSNP:
331
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19962894G>A , CM000670.2:g.19962894G>A GRCh38
NC_000008.10:g.19820405G>A , CM000670.1:g.19820405G>A GRCh37
NC_000008.9:g.19864685G>A NCBI36
NG_008855.1:g.28824G>A
NG_008855.2:g.66178G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1427+675G>A MANE Select ENSP00000497642.1:n.1427+675G>A
ENST00000650478.1:c.367+675G>A ENSP00000497560.1:n.367+675G>A
ENST00000311322.8:c.1427+675G>A ENSP00000309757.6:n.1427+675G>A
NM_000237.2:c.1427+675G>A NP_000228.1:n.1427+675G>A
NM_000237.3:c.1427+675G>A MANE Select NP_000228.1:n.1427+675G>A
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