Canonical Allele Identifier: CA370469313
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1767136
ClinVar RCV Id: RCV002374097
dbSNP Id: rs1410146792
gnomAD v4: 8-19956014-A-T
MyVariant Identifiers: chr8:g.19813525A>T (hg19) chr8:g.19956014A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19956014A>T , CM000670.2:g.19956014A>T GRCh38
NC_000008.10:g.19813525A>T , CM000670.1:g.19813525A>T GRCh37
NC_000008.9:g.19857805A>T NCBI36
NG_008855.1:g.21944A>T
NG_008855.2:g.59298A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.949A>T MANE Select ENSP00000497642.1:p.Ile317Phe
ENST00000650478.1:c.10A>T ENSP00000497560.1:p.Ile4Phe
ENST00000311322.8:c.949A>T ENSP00000309757.6:p.Ile317Phe
NM_000237.2:c.949A>T NP_000228.1:p.Ile317Phe
NM_000237.3:c.949A>T MANE Select NP_000228.1:p.Ile317Phe
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