Canonical Allele Identifier: CA173618761
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs924060254
gnomAD v3: 8-19967056-G-A
gnomAD v4: 8-19967056-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19967056G>A , CM000670.2:g.19967056G>A GRCh38
NC_000008.10:g.19824567G>A , CM000670.1:g.19824567G>A GRCh37
NC_000008.9:g.19868847G>A NCBI36
NG_008855.1:g.32986G>A
NG_008855.2:g.70340G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.*1746G>A MANE Select ENSP00000497642.1:n.*1746G>A
ENST00000650478.1:c.2114G>A ENSP00000497560.1:n.2114G>A
ENST00000311322.8:c.*1746G>A ENSP00000309757.6:n.*1746G>A
NM_000237.2:c.*1746G>A NP_000228.1:n.*1746G>A
NM_000237.3:c.*1746G>A MANE Select NP_000228.1:n.*1746G>A