Canonical Allele Identifier: CA4655368
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2454162
ClinVar RCV Id: RCV003172694
dbSNP Id: rs182593459
ExAC: 8:19809284 C / T
gnomAD v2: 8-19809284-C-T
gnomAD v3: 8-19951773-C-T
gnomAD v4: 8-19951773-C-T
MyVariant Identifiers: chr8:g.19809284C>T (hg19) chr8:g.19951773C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951773C>T , CM000670.2:g.19951773C>T GRCh38
NC_000008.10:g.19809284C>T , CM000670.1:g.19809284C>T GRCh37
NC_000008.9:g.19853564C>T NCBI36
NG_008855.1:g.17703C>T
NG_008855.2:g.55057C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.254C>T MANE Select ENSP00000497642.1:p.Thr85Ile
ENST00000311322.8:c.254C>T ENSP00000309757.6:p.Thr85Ile
ENST00000520959.5:c.26C>T ENSP00000428496.1:p.Thr9Ile
ENST00000521994.1:n.511C>T
ENST00000522701.5:c.254C>T ENSP00000428557.1:p.Thr85Ile
ENST00000524029.5:c.254C>T ENSP00000428237.1:p.Thr85Ile
NM_000237.2:c.254C>T NP_000228.1:p.Thr85Ile
NM_000237.3:c.254C>T MANE Select NP_000228.1:p.Thr85Ile
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