Canonical Allele Identifier: CA849568049
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1453156666
gnomAD v3: 8-19967043-A-G
gnomAD v4: 8-19967043-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19967043A>G , CM000670.2:g.19967043A>G GRCh38
NC_000008.10:g.19824554A>G , CM000670.1:g.19824554A>G GRCh37
NC_000008.9:g.19868834A>G NCBI36
NG_008855.1:g.32973A>G
NG_008855.2:g.70327A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.*1733A>G MANE Select ENSP00000497642.1:n.*1733A>G
ENST00000650478.1:c.2101A>G ENSP00000497560.1:n.2101A>G
ENST00000311322.8:c.*1733A>G ENSP00000309757.6:n.*1733A>G
NM_000237.2:c.*1733A>G NP_000228.1:n.*1733A>G
NM_000237.3:c.*1733A>G MANE Select NP_000228.1:n.*1733A>G