Canonical Allele Identifier: CA580154257
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1712082
ClinVar RCV Id: RCV002293800
dbSNP Id: rs763635553
gnomAD v2: 8-19796949-G-T
gnomAD v4: 8-19939438-G-T
MyVariant Identifiers: chr8:g.19796949G>T (hg19) chr8:g.19939438G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19939438G>T , CM000670.2:g.19939438G>T GRCh38
NC_000008.10:g.19796949G>T , CM000670.1:g.19796949G>T GRCh37
NC_000008.9:g.19841229G>T NCBI36
NG_008855.1:g.5368G>T
NG_008855.2:g.42722G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.-3G>T MANE Select ENSP00000497642.1:n.-3G>T
ENST00000311322.8:c.-3G>T ENSP00000309757.6:n.-3G>T
ENST00000519773.1:c.-3G>T ENSP00000431028.1:n.-3G>T
ENST00000520959.5:c.-140-8742G>T ENSP00000428496.1:n.-140-8742G>T
ENST00000521994.1:n.183G>T
ENST00000522701.5:c.-3G>T ENSP00000428557.1:n.-3G>T
ENST00000523696.1:n.67G>T
ENST00000524029.5:c.-3G>T ENSP00000428237.1:n.-3G>T
NM_000237.2:c.-3G>T NP_000228.1:n.-3G>T
NM_000237.3:c.-3G>T MANE Select NP_000228.1:n.-3G>T
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