Canonical Allele Identifier: CA370467647
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs2069937636
gnomAD v3: 8-19951884-C-A
gnomAD v4: 8-19951884-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951884C>A , CM000670.2:g.19951884C>A GRCh38
NC_000008.10:g.19809395C>A , CM000670.1:g.19809395C>A GRCh37
NC_000008.9:g.19853675C>A NCBI36
NG_008855.1:g.17814C>A
NG_008855.2:g.55168C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.365C>A MANE Select ENSP00000497642.1:p.Pro122Gln
ENST00000311322.8:c.365C>A ENSP00000309757.6:p.Pro122Gln
ENST00000520959.5:c.137C>A ENSP00000428496.1:p.Pro46Gln
ENST00000524029.5:c.365C>A ENSP00000428237.1:p.Pro122Gln
NM_000237.2:c.365C>A NP_000228.1:p.Pro122Gln
NM_000237.3:c.365C>A MANE Select NP_000228.1:p.Pro122Gln