Canonical Allele Identifier: CA459678557
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1105351
ClinVar RCV Id: RCV003160721 RCV001429723
dbSNP Id: rs1453664641
gnomAD v2: 8-19809447-C-T
gnomAD v3: 8-19951936-C-T
gnomAD v4: 8-19951936-C-T
MyVariant Identifiers: chr8:g.19809447C>T (hg19) chr8:g.19951936C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951936C>T , CM000670.2:g.19951936C>T GRCh38
NC_000008.10:g.19809447C>T , CM000670.1:g.19809447C>T GRCh37
NC_000008.9:g.19853727C>T NCBI36
NG_008855.1:g.17866C>T
NG_008855.2:g.55220C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.417C>T MANE Select ENSP00000497642.1:p.Ile139=
ENST00000311322.8:c.417C>T ENSP00000309757.6:p.Ile139=
ENST00000520959.5:c.189C>T ENSP00000428496.1:p.Ile63=
NM_000237.2:c.417C>T NP_000228.1:p.Ile139=
NM_000237.3:c.417C>T MANE Select NP_000228.1:p.Ile139=
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