Canonical Allele Identifier: CA1769097429
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2895318
ClinVar RCV Id: RCV003728369
dbSNP Id: rs2069935961
gnomAD v4: 8-19951755-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951755G>A , CM000670.2:g.19951755G>A GRCh38
NC_000008.10:g.19809266G>A , CM000670.1:g.19809266G>A GRCh37
NC_000008.9:g.19853546G>A NCBI36
NG_008855.1:g.17685G>A
NG_008855.2:g.55039G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.250-14G>A MANE Select ENSP00000497642.1:n.250-14G>A
ENST00000311322.8:c.250-14G>A ENSP00000309757.6:n.250-14G>A
ENST00000520959.5:c.22-14G>A ENSP00000428496.1:n.22-14G>A
ENST00000521994.1:n.493G>A
ENST00000522701.5:c.250-14G>A ENSP00000428557.1:n.250-14G>A
ENST00000524029.5:c.250-14G>A ENSP00000428237.1:n.250-14G>A
NM_000237.2:c.250-14G>A NP_000228.1:n.250-14G>A
NM_000237.3:c.250-14G>A MANE Select NP_000228.1:n.250-14G>A
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