Canonical Allele Identifier: CA4655493
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1684865
ClinVar RCV Id: RCV002247957
dbSNP Id: rs769439327
ExAC: 8:19811774 C / G
gnomAD v2: 8-19811774-C-G
gnomAD v3: 8-19954263-C-G
gnomAD v4: 8-19954263-C-G
MyVariant Identifiers: chr8:g.19811774C>G (hg19) chr8:g.19954263C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954263C>G , CM000670.2:g.19954263C>G GRCh38
NC_000008.10:g.19811774C>G , CM000670.1:g.19811774C>G GRCh37
NC_000008.9:g.19856054C>G NCBI36
NG_008855.1:g.20193C>G
NG_008855.2:g.57547C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.685C>G MANE Select ENSP00000497642.1:p.His229Asp
ENST00000311322.8:c.685C>G ENSP00000309757.6:p.His229Asp
NM_000237.2:c.685C>G NP_000228.1:p.His229Asp
NM_000237.3:c.685C>G MANE Select NP_000228.1:p.His229Asp
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