Canonical Allele Identifier: CA036986

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 413318
• ClinVar RCV Id: RCV000589036 ; RCV000776072 ; RCV001080375 ; RCV001097683 ; RCV001821313 ; RCV002393184
• dbSNP Id: rs28362268
• ExAC: 1:55524248 C / T
• gnomAD v2: 1-55524248-C-T
• gnomAD v3: 1-55058575-C-T
• gnomAD v4: 1-55058575-C-T
• MyVariant Identifiers: chr1:g.55524248C>T (hg19) ; chr1:g.55058575C>T (hg38)
• PubMed: PMID:19191301

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55058575C>T , CM000663.2:g.55058575C>T	GRCh38
NC_000001.10:g.55524248C>T , CM000663.1:g.55524248C>T	GRCh37
NC_000001.9:g.55296836C>T	NCBI36
NG_009061.1:g.24029C>T , LRG_275:g.24029C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1431C>T	ENSP00000501161.2:p.Cys477=
ENST00000710286.1:c.1788C>T	ENSP00000518176.1:p.Cys596=
ENST00000673903.1:c.1056C>T	ENSP00000501257.1:p.Cys352=
ENST00000673913.1:c.171C>T	ENSP00000501161.1:p.Cys57=
ENST00000302118.5:c.1431C>T MANE Select	ENSP00000303208.5:p.Cys477=
ENST00000490692.1:n.2155C>T
NM_174936.3:c.1431C>T , LRG_275t1:c.1431C>T	NP_777596.2:p.Cys477=
NR_110451.1:n.1038C>T
XM_011541193.1:c.552C>T	XP_011539495.1:p.Cys184=
NM_174936.4:c.1431C>T MANE Select	NP_777596.2:p.Cys477=
NR_110451.2:n.1038C>T