Canonical Allele Identifier: CA4655491
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2441229
ClinVar RCV Id: RCV003147058
dbSNP Id: rs528243561
ExAC: 8:19811769 T / C
gnomAD v2: 8-19811769-T-C
gnomAD v3: 8-19954258-T-C
gnomAD v4: 8-19954258-T-C
MyVariant Identifiers: chr8:g.19811769T>C (hg19) chr8:g.19954258T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954258T>C , CM000670.2:g.19954258T>C GRCh38
NC_000008.10:g.19811769T>C , CM000670.1:g.19811769T>C GRCh37
NC_000008.9:g.19856049T>C NCBI36
NG_008855.1:g.20188T>C
NG_008855.2:g.57542T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.680T>C MANE Select ENSP00000497642.1:p.Val227Ala
ENST00000311322.8:c.680T>C ENSP00000309757.6:p.Val227Ala
NM_000237.2:c.680T>C NP_000228.1:p.Val227Ala
NM_000237.3:c.680T>C MANE Select NP_000228.1:p.Val227Ala
Search 100 bp 5'
Search 100 bp 3'