Canonical Allele Identifier: CA251865
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1527
dbSNP Id: rs118204060
gnomAD v2: 8-19811790-C-T
gnomAD v3: 8-19954279-C-T
gnomAD v4: 8-19954279-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954279C>T , CM000670.2:g.19954279C>T GRCh38
NC_000008.10:g.19811790C>T , CM000670.1:g.19811790C>T GRCh37
NC_000008.9:g.19856070C>T NCBI36
NG_008855.1:g.20209C>T
NG_008855.2:g.57563C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.701C>T MANE Select ENSP00000497642.1:p.Pro234Leu
ENST00000311322.8:c.701C>T ENSP00000309757.6:p.Pro234Leu
NM_000237.2:c.701C>T NP_000228.1:p.Pro234Leu
NM_000237.3:c.701C>T MANE Select NP_000228.1:p.Pro234Leu