Canonical Allele Identifier: CA370469044
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1487585941
gnomAD v3: 8-19955895-A-G
gnomAD v4: 8-19955895-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955895A>G , CM000670.2:g.19955895A>G GRCh38
NC_000008.10:g.19813406A>G , CM000670.1:g.19813406A>G GRCh37
NC_000008.9:g.19857686A>G NCBI36
NG_008855.1:g.21825A>G
NG_008855.2:g.59179A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.830A>G MANE Select ENSP00000497642.1:p.Asp277Gly
ENST00000311322.8:c.830A>G ENSP00000309757.6:p.Asp277Gly
NM_000237.2:c.830A>G NP_000228.1:p.Asp277Gly
NM_000237.3:c.830A>G MANE Select NP_000228.1:p.Asp277Gly