Canonical Allele Identifier: CA523275405
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 3070727
ClinVar RCV Id: RCV004013237
dbSNP Id: rs1341655436
gnomAD v2: 1-55505501-C-T
gnomAD v3: 1-55039828-C-T
gnomAD v4: 1-55039828-C-T
MyVariant Identifiers: chr1:g.55505501C>T (hg19) chr1:g.55039828C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039828C>T , CM000663.2:g.55039828C>T GRCh38
NC_000001.10:g.55505501C>T , CM000663.1:g.55505501C>T GRCh37
NC_000001.9:g.55278089C>T NCBI36
NG_009061.1:g.5282C>T , LRG_275:g.5282C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.-10C>T ENSP00000501161.2:n.-10C>T
ENST00000710286.1:c.348C>T ENSP00000518176.1:p.Pro116=
ENST00000673726.1:c.-10C>T ENSP00000501004.1:n.-10C>T
ENST00000302118.5:c.-10C>T MANE Select ENSP00000303208.5:n.-10C>T
NM_174936.3:c.-10C>T , LRG_275t1:c.-10C>T NP_777596.2:n.-10C>T
NM_174936.4:c.-10C>T MANE Select NP_777596.2:n.-10C>T
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