Canonical Allele Identifier: CA4655560
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs771085188
ExAC: 8:19813500 C / A
gnomAD v2: 8-19813500-C-A
gnomAD v3: 8-19955989-C-A
gnomAD v4: 8-19955989-C-A
MyVariant Identifiers: chr8:g.19813500C>A (hg19) chr8:g.19955989C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955989C>A , CM000670.2:g.19955989C>A GRCh38
NC_000008.10:g.19813500C>A , CM000670.1:g.19813500C>A GRCh37
NC_000008.9:g.19857780C>A NCBI36
NG_008855.1:g.21919C>A
NG_008855.2:g.59273C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.924C>A MANE Select ENSP00000497642.1:p.Asn308Lys
ENST00000311322.8:c.924C>A ENSP00000309757.6:p.Asn308Lys
NM_000237.2:c.924C>A NP_000228.1:p.Asn308Lys
NM_000237.3:c.924C>A MANE Select NP_000228.1:p.Asn308Lys
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