Canonical Allele Identifier: CA4655363
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2917907
ClinVar RCV Id: RCV003737882
dbSNP Id: rs748003181
ExAC: 8:19809264 G / T
gnomAD v2: 8-19809264-G-T
gnomAD v3: 8-19951753-G-T
gnomAD v4: 8-19951753-G-T
MyVariant Identifiers: chr8:g.19809264G>T (hg19) chr8:g.19951753G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951753G>T , CM000670.2:g.19951753G>T GRCh38
NC_000008.10:g.19809264G>T , CM000670.1:g.19809264G>T GRCh37
NC_000008.9:g.19853544G>T NCBI36
NG_008855.1:g.17683G>T
NG_008855.2:g.55037G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.250-16G>T MANE Select ENSP00000497642.1:n.250-16G>T
ENST00000311322.8:c.250-16G>T ENSP00000309757.6:n.250-16G>T
ENST00000520959.5:c.22-16G>T ENSP00000428496.1:n.22-16G>T
ENST00000521994.1:n.491G>T
ENST00000522701.5:c.250-16G>T ENSP00000428557.1:n.250-16G>T
ENST00000524029.5:c.250-16G>T ENSP00000428237.1:n.250-16G>T
NM_000237.2:c.250-16G>T NP_000228.1:n.250-16G>T
NM_000237.3:c.250-16G>T MANE Select NP_000228.1:n.250-16G>T
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