Canonical Allele Identifier: CA4655371
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs753068328
gnomAD v2: 8-19809298-A-G
gnomAD v4: 8-19951787-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951787A>G , CM000670.2:g.19951787A>G GRCh38
NC_000008.10:g.19809298A>G , CM000670.1:g.19809298A>G GRCh37
NC_000008.9:g.19853578A>G NCBI36
NG_008855.1:g.17717A>G
NG_008855.2:g.55071A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.268A>G MANE Select ENSP00000497642.1:p.Ser90Gly
ENST00000311322.8:c.268A>G ENSP00000309757.6:p.Ser90Gly
ENST00000520959.5:c.40A>G ENSP00000428496.1:p.Ser14Gly
ENST00000521994.1:n.525A>G
ENST00000522701.5:c.268A>G ENSP00000428557.1:p.Ser90Gly
ENST00000524029.5:c.268A>G ENSP00000428237.1:p.Ser90Gly
NM_000237.2:c.268A>G NP_000228.1:p.Ser90Gly
NM_000237.3:c.268A>G MANE Select NP_000228.1:p.Ser90Gly