Canonical Allele Identifier: CA4655397
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1735664
ClinVar RCV Id: RCV002355586 RCV003228070
dbSNP Id: rs140903633
ExAC: 8:19809416 A / C
gnomAD v2: 8-19809416-A-C
gnomAD v3: 8-19951905-A-C
gnomAD v4: 8-19951905-A-C
MyVariant Identifiers: chr8:g.19809416A>C (hg19) chr8:g.19951905A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951905A>C , CM000670.2:g.19951905A>C GRCh38
NC_000008.10:g.19809416A>C , CM000670.1:g.19809416A>C GRCh37
NC_000008.9:g.19853696A>C NCBI36
NG_008855.1:g.17835A>C
NG_008855.2:g.55189A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.386A>C MANE Select ENSP00000497642.1:p.Lys129Thr
ENST00000311322.8:c.386A>C ENSP00000309757.6:p.Lys129Thr
ENST00000520959.5:c.158A>C ENSP00000428496.1:p.Lys53Thr
ENST00000524029.5:c.386A>C ENSP00000428237.1:p.Lys129Thr
NM_000237.2:c.386A>C NP_000228.1:p.Lys129Thr
NM_000237.3:c.386A>C MANE Select NP_000228.1:p.Lys129Thr
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