Canonical Allele Identifier: CA173618752
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs545856723
gnomAD v3: 8-19966916-C-T
gnomAD v4: 8-19966916-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19966916C>T , CM000670.2:g.19966916C>T GRCh38
NC_000008.10:g.19824427C>T , CM000670.1:g.19824427C>T GRCh37
NC_000008.9:g.19868707C>T NCBI36
NG_008855.1:g.32846C>T
NG_008855.2:g.70200C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.*1606C>T MANE Select ENSP00000497642.1:n.*1606C>T
ENST00000650478.1:c.1974C>T ENSP00000497560.1:n.1974C>T
ENST00000311322.8:c.*1606C>T ENSP00000309757.6:n.*1606C>T
NM_000237.2:c.*1606C>T NP_000228.1:n.*1606C>T
NM_000237.3:c.*1606C>T MANE Select NP_000228.1:n.*1606C>T