Canonical Allele Identifier: CA2739279732
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2829717
ClinVar RCV Id: RCV003686408

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951753G>A , CM000670.2:g.19951753G>A GRCh38
NC_000008.10:g.19809264G>A , CM000670.1:g.19809264G>A GRCh37
NC_000008.9:g.19853544G>A NCBI36
NG_008855.1:g.17683G>A
NG_008855.2:g.55037G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.250-16G>A MANE Select ENSP00000497642.1:n.250-16G>A
ENST00000311322.8:c.250-16G>A ENSP00000309757.6:n.250-16G>A
ENST00000520959.5:c.22-16G>A ENSP00000428496.1:n.22-16G>A
ENST00000521994.1:n.491G>A
ENST00000522701.5:c.250-16G>A ENSP00000428557.1:n.250-16G>A
ENST00000524029.5:c.250-16G>A ENSP00000428237.1:n.250-16G>A
NM_000237.2:c.250-16G>A NP_000228.1:n.250-16G>A
NM_000237.3:c.250-16G>A MANE Select NP_000228.1:n.250-16G>A