Canonical Allele Identifier: CA417957587
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1736338
ClinVar RCV Id: RCV003581830 RCV002373275
dbSNP Id: rs1450907879
gnomAD v2: 1-55509701-G-A
gnomAD v3: 1-55044028-G-A
gnomAD v4: 1-55044028-G-A
MyVariant Identifiers: chr1:g.55509701G>A (hg19) chr1:g.55044028G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55044028G>A , CM000663.2:g.55044028G>A GRCh38
NC_000001.10:g.55509701G>A , CM000663.1:g.55509701G>A GRCh37
NC_000001.9:g.55282289G>A NCBI36
NG_009061.1:g.9482G>A , LRG_275:g.9482G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.393G>A ENSP00000501161.2:p.Leu131=
ENST00000710286.1:c.750G>A ENSP00000518176.1:p.Leu250=
ENST00000673662.1:n.63G>A
ENST00000673726.1:c.393G>A ENSP00000501004.1:p.Leu131=
ENST00000673903.1:c.18G>A ENSP00000501257.1:p.Leu6=
ENST00000302118.5:c.393G>A MANE Select ENSP00000303208.5:p.Leu131=
NM_174936.3:c.393G>A , LRG_275t1:c.393G>A NP_777596.2:p.Leu131=
NR_110451.1:n.182+3625G>A
NM_174936.4:c.393G>A MANE Select NP_777596.2:p.Leu131=
NR_110451.2:n.182+3625G>A
Search 100 bp 5'
Search 100 bp 3'