Canonical Allele Identifier: CA041270

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 927833
• ClinVar RCV Id: RCV001191370 ; RCV001859152
• dbSNP Id: rs140319509
• ExAC: 1:55509597 C / T
• gnomAD v2: 1-55509597-C-T
• gnomAD v3: 1-55043924-C-T
• gnomAD v4: 1-55043924-C-T
• MyVariant Identifiers: chr1:g.55509597C>T (hg19) ; chr1:g.55043924C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043924C>T , CM000663.2:g.55043924C>T	GRCh38
NC_000001.10:g.55509597C>T , CM000663.1:g.55509597C>T	GRCh37
NC_000001.9:g.55282185C>T	NCBI36
NG_009061.1:g.9378C>T , LRG_275:g.9378C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.289C>T	ENSP00000501161.2:p.Arg97Cys
ENST00000710286.1:c.646C>T	ENSP00000518176.1:p.Arg216Cys
ENST00000673726.1:c.289C>T	ENSP00000501004.1:p.Arg97Cys
ENST00000673903.1:c.-87C>T	ENSP00000501257.1:n.-87C>T
ENST00000302118.5:c.289C>T MANE Select	ENSP00000303208.5:p.Arg97Cys
NM_174936.3:c.289C>T , LRG_275t1:c.289C>T	NP_777596.2:p.Arg97Cys
NR_110451.1:n.182+3521C>T
NM_174936.4:c.289C>T MANE Select	NP_777596.2:p.Arg97Cys
NR_110451.2:n.182+3521C>T