Canonical Allele Identifier: CA2594230654
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs2128835084
gnomAD v3: 8-19939314-T-C
gnomAD v4: 8-19939314-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19939314T>C , CM000670.2:g.19939314T>C GRCh38
NC_000008.10:g.19796825T>C , CM000670.1:g.19796825T>C GRCh37
NC_000008.9:g.19841105T>C NCBI36
NG_008855.1:g.5244T>C
NG_008855.2:g.42598T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.-127T>C MANE Select ENSP00000497642.1:n.-127T>C
ENST00000311322.8:c.-127T>C ENSP00000309757.6:n.-127T>C
ENST00000519773.1:c.-127T>C ENSP00000431028.1:n.-127T>C
ENST00000520959.5:c.-140-8866T>C ENSP00000428496.1:n.-140-8866T>C
ENST00000521994.1:n.59T>C
ENST00000522701.5:c.-127T>C ENSP00000428557.1:n.-127T>C
ENST00000524029.5:c.-127T>C ENSP00000428237.1:n.-127T>C
NM_000237.2:c.-127T>C NP_000228.1:n.-127T>C
NM_000237.3:c.-127T>C MANE Select NP_000228.1:n.-127T>C
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