Canonical Allele Identifier: CA12890884
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19960531G>A
GRCh37 chr8:g.19818042G>A
gnomAD v2:
8:19818042 G / A
gnomAD v3:
8:19960531 G / A
gnomAD v4:
chr8-19960531-G-A
Joint Max Group AF 0.65792648 (AFR)
Genomes Max Group AF 0.65792648 (AFR)
dbSNP:
314
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19960531G>A , CM000670.2:g.19960531G>A GRCh38
NC_000008.10:g.19818042G>A , CM000670.1:g.19818042G>A GRCh37
NC_000008.9:g.19862322G>A NCBI36
NG_008855.1:g.26461G>A
NG_008855.2:g.63815G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1140-370G>A MANE Select ENSP00000497642.1:n.1140-370G>A
ENST00000650478.1:c.80-370G>A ENSP00000497560.1:n.80-370G>A
ENST00000311322.8:c.1140-370G>A ENSP00000309757.6:n.1140-370G>A
NM_000237.2:c.1140-370G>A NP_000228.1:n.1140-370G>A
NM_000237.3:c.1140-370G>A MANE Select NP_000228.1:n.1140-370G>A
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