Canonical Allele Identifier: CA1111558927
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs2070095603
gnomAD v3: 8-19967028-T-C
gnomAD v4: 8-19967028-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19967028T>C , CM000670.2:g.19967028T>C GRCh38
NC_000008.10:g.19824539T>C , CM000670.1:g.19824539T>C GRCh37
NC_000008.9:g.19868819T>C NCBI36
NG_008855.1:g.32958T>C
NG_008855.2:g.70312T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.*1718T>C MANE Select ENSP00000497642.1:n.*1718T>C
ENST00000650478.1:c.2086T>C ENSP00000497560.1:n.2086T>C
ENST00000311322.8:c.*1718T>C ENSP00000309757.6:n.*1718T>C
NM_000237.2:c.*1718T>C NP_000228.1:n.*1718T>C
NM_000237.3:c.*1718T>C MANE Select NP_000228.1:n.*1718T>C