Canonical Allele Identifier: CA2739279731
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2852240
ClinVar RCV Id: RCV003693491
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951749G>A , CM000670.2:g.19951749G>A GRCh38
NC_000008.10:g.19809260G>A , CM000670.1:g.19809260G>A GRCh37
NC_000008.9:g.19853540G>A NCBI36
NG_008855.1:g.17679G>A
NG_008855.2:g.55033G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.250-20G>A MANE Select ENSP00000497642.1:n.250-20G>A
ENST00000311322.8:c.250-20G>A ENSP00000309757.6:n.250-20G>A
ENST00000520959.5:c.22-20G>A ENSP00000428496.1:n.22-20G>A
ENST00000521994.1:n.487G>A
ENST00000522701.5:c.250-20G>A ENSP00000428557.1:n.250-20G>A
ENST00000524029.5:c.250-20G>A ENSP00000428237.1:n.250-20G>A
NM_000237.2:c.250-20G>A NP_000228.1:n.250-20G>A
NM_000237.3:c.250-20G>A MANE Select NP_000228.1:n.250-20G>A
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