Canonical Allele Identifier: CA849549625
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 911585
ClinVar RCV Id: RCV001164120
dbSNP Id: rs1388541862
gnomAD v3: 8-19939340-C-T
gnomAD v4: 8-19939340-C-T
MyVariant Identifiers: chr8:g.19796851C>T (hg19) chr8:g.19939340C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19939340C>T , CM000670.2:g.19939340C>T GRCh38
NC_000008.10:g.19796851C>T , CM000670.1:g.19796851C>T GRCh37
NC_000008.9:g.19841131C>T NCBI36
NG_008855.1:g.5270C>T
NG_008855.2:g.42624C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.-101C>T MANE Select ENSP00000497642.1:n.-101C>T
ENST00000311322.8:c.-101C>T ENSP00000309757.6:n.-101C>T
ENST00000519773.1:c.-101C>T ENSP00000431028.1:n.-101C>T
ENST00000520959.5:c.-140-8840C>T ENSP00000428496.1:n.-140-8840C>T
ENST00000521994.1:n.85C>T
ENST00000522701.5:c.-101C>T ENSP00000428557.1:n.-101C>T
ENST00000524029.5:c.-101C>T ENSP00000428237.1:n.-101C>T
NM_000237.2:c.-101C>T NP_000228.1:n.-101C>T
NM_000237.3:c.-101C>T MANE Select NP_000228.1:n.-101C>T
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