Canonical Allele Identifier: CA370467628
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1382166712
gnomAD v2: 8-19809388-C-A
gnomAD v4: 8-19951877-C-A
MyVariant Identifiers: chr8:g.19809388C>A (hg19) chr8:g.19951877C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951877C>A , CM000670.2:g.19951877C>A GRCh38
NC_000008.10:g.19809388C>A , CM000670.1:g.19809388C>A GRCh37
NC_000008.9:g.19853668C>A NCBI36
NG_008855.1:g.17807C>A
NG_008855.2:g.55161C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.358C>A MANE Select ENSP00000497642.1:p.His120Asn
ENST00000311322.8:c.358C>A ENSP00000309757.6:p.His120Asn
ENST00000520959.5:c.130C>A ENSP00000428496.1:p.His44Asn
ENST00000524029.5:c.358C>A ENSP00000428237.1:p.His120Asn
NM_000237.2:c.358C>A NP_000228.1:p.His120Asn
NM_000237.3:c.358C>A MANE Select NP_000228.1:p.His120Asn
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