Canonical Allele Identifier: CA4655501
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1758170
ClinVar RCV Id: RCV002382745 RCV003718550
dbSNP Id: rs764464946
ExAC: 8:19811818 T / C
gnomAD v2: 8-19811818-T-C
gnomAD v3: 8-19954307-T-C
gnomAD v4: 8-19954307-T-C
MyVariant Identifiers: chr8:g.19811818T>C (hg19) chr8:g.19954307T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954307T>C , CM000670.2:g.19954307T>C GRCh38
NC_000008.10:g.19811818T>C , CM000670.1:g.19811818T>C GRCh37
NC_000008.9:g.19856098T>C NCBI36
NG_008855.1:g.20237T>C
NG_008855.2:g.57591T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.729T>C MANE Select ENSP00000497642.1:p.Cys243=
ENST00000311322.8:c.729T>C ENSP00000309757.6:p.Cys243=
NM_000237.2:c.729T>C NP_000228.1:p.Cys243=
NM_000237.3:c.729T>C MANE Select NP_000228.1:p.Cys243=
Search 100 bp 5'
Search 100 bp 3'