Canonical Allele Identifier: CA040149

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 727658
• ClinVar RCV Id: RCV001181026 ; RCV001459112 ; RCV004028522
• dbSNP Id: rs760439904
• ExAC: 1:55505708 C / T
• gnomAD v2: 1-55505708-C-T
• gnomAD v3: 1-55040035-C-T
• gnomAD v4: 1-55040035-C-T
• MyVariant Identifiers: chr1:g.55505708C>T (hg19) ; chr1:g.55040035C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55040035C>T , CM000663.2:g.55040035C>T	GRCh38
NC_000001.10:g.55505708C>T , CM000663.1:g.55505708C>T	GRCh37
NC_000001.9:g.55278296C>T	NCBI36
NG_009061.1:g.5489C>T , LRG_275:g.5489C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.198C>T	ENSP00000501161.2:p.Arg66=
ENST00000710286.1:c.555C>T	ENSP00000518176.1:p.Arg185=
ENST00000673726.1:c.198C>T	ENSP00000501004.1:p.Arg66=
ENST00000302118.5:c.198C>T MANE Select	ENSP00000303208.5:p.Arg66=
NM_174936.3:c.198C>T , LRG_275t1:c.198C>T	NP_777596.2:p.Arg66=
NM_174936.4:c.198C>T MANE Select	NP_777596.2:p.Arg66=