Canonical Allele Identifier: CA251889
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19948197G>A
GRCh37 chr8:g.19805708G>A
Revel Score:
ENST00000524029 0.328
ENST00000522701 0.328
ENST00000311322 0.328
ENST00000535763 0.328
gnomAD v2:
8:19805708 G / A
gnomAD v3:
8:19948197 G / A
gnomAD v4:
chr8-19948197-G-A
Joint Max Group AF 0.04590202 (AFR)
Genomes Max Group AF 0.04408757 (AFR)
Exomes Max Group AF 0.04695904 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19948197G>A , CM000670.2:g.19948197G>A GRCh38
NC_000008.10:g.19805708G>A , CM000670.1:g.19805708G>A GRCh37
NC_000008.9:g.19849988G>A NCBI36
NG_008855.1:g.14127G>A
NG_008855.2:g.51481G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.106G>A MANE Select ENSP00000497642.1:p.Asp36Asn
ENST00000311322.8:c.106G>A ENSP00000309757.6:p.Asp36Asn
ENST00000519773.1:c.*143G>A ENSP00000431028.1:n.*143G>A
ENST00000520959.5:c.-123G>A ENSP00000428496.1:n.-123G>A
ENST00000521994.1:n.291G>A
ENST00000522701.5:c.106G>A ENSP00000428557.1:p.Asp36Asn
ENST00000523696.1:n.175G>A
ENST00000524029.5:c.106G>A ENSP00000428237.1:p.Asp36Asn
NM_000237.2:c.106G>A NP_000228.1:p.Asp36Asn
NM_000237.3:c.106G>A MANE Select NP_000228.1:p.Asp36Asn
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