Canonical Allele Identifier: CA173378115
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs879704978
gnomAD v2: 8-19813123-A-C
gnomAD v3: 8-19955612-A-C
gnomAD v4: 8-19955612-A-C
MyVariant Identifiers: chr8:g.19813123A>C (hg19) chr8:g.19955612A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955612A>C , CM000670.2:g.19955612A>C GRCh38
NC_000008.10:g.19813123A>C , CM000670.1:g.19813123A>C GRCh37
NC_000008.9:g.19857403A>C NCBI36
NG_008855.1:g.21542A>C
NG_008855.2:g.58896A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.776-229A>C MANE Select ENSP00000497642.1:n.776-229A>C
ENST00000311322.8:c.776-229A>C ENSP00000309757.6:n.776-229A>C
NM_000237.2:c.776-229A>C NP_000228.1:n.776-229A>C
NM_000237.3:c.776-229A>C MANE Select NP_000228.1:n.776-229A>C
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