Canonical Allele Identifier: CA10610491
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 297690
ClinVar RCV Id: RCV000341084 RCV000403025
dbSNP Id: rs886046431
gnomAD v4: 1-55039658-T-G
MyVariant Identifiers: chr1:g.55505331T>G (hg19) chr1:g.55039658T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039658T>G , CM000663.2:g.55039658T>G GRCh38
NC_000001.10:g.55505331T>G , CM000663.1:g.55505331T>G GRCh37
NC_000001.9:g.55277919T>G NCBI36
NG_009061.1:g.5112T>G , LRG_275:g.5112T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.-180T>G ENSP00000501161.2:n.-180T>G
ENST00000710286.1:c.178T>G ENSP00000518176.1:p.Ser60Ala
ENST00000673726.1:c.-180T>G ENSP00000501004.1:n.-180T>G
ENST00000302118.5:c.-180T>G MANE Select ENSP00000303208.5:n.-180T>G
NM_174936.3:c.-180T>G , LRG_275t1:c.-180T>G NP_777596.2:n.-180T>G
NM_174936.4:c.-180T>G MANE Select NP_777596.2:n.-180T>G
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