Canonical Allele Identifier: CA4655468
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19954131G>A
GRCh37 chr8:g.19811642G>A
Revel Score:
ENST00000520959 0.775
ENST00000311322 0.775
ENST00000538071 0.775
ENST00000535763 0.775
gnomAD v2:
8:19811642 G / A
gnomAD v4:
chr8-19954131-G-A
Joint Max Group AF 0.00000875 (SAS)
Exomes Max Group AF 0.00000924 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954131G>A , CM000670.2:g.19954131G>A GRCh38
NC_000008.10:g.19811642G>A , CM000670.1:g.19811642G>A GRCh37
NC_000008.9:g.19855922G>A NCBI36
NG_008855.1:g.20061G>A
NG_008855.2:g.57415G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.553G>A MANE Select ENSP00000497642.1:p.Ala185Thr
ENST00000311322.8:c.553G>A ENSP00000309757.6:p.Ala185Thr
ENST00000520959.5:c.325G>A ENSP00000428496.1:p.Ala109Thr
NM_000237.2:c.553G>A NP_000228.1:p.Ala185Thr
NM_000237.3:c.553G>A MANE Select NP_000228.1:p.Ala185Thr
Search 100 bp 5'
Search 100 bp 3'