Canonical Allele Identifier: CA340480354

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 919674
• ClinVar RCV Id: RCV001177986
• dbSNP Id: rs578162610
• MyVariant Identifiers: chr1:g.55527147C>T (hg19) ; chr1:g.55061474C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061474C>T , CM000663.2:g.55061474C>T	GRCh38
NC_000001.10:g.55527147C>T , CM000663.1:g.55527147C>T	GRCh37
NC_000001.9:g.55299735C>T	NCBI36
NG_009061.1:g.26928C>T , LRG_275:g.26928C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*121C>T	ENSP00000501161.2:n.*121C>T
ENST00000710286.1:c.2138C>T	ENSP00000518176.1:p.Ala713Val
ENST00000673903.1:c.1406C>T	ENSP00000501257.1:p.Ala469Val
ENST00000673913.1:c.631C>T	ENSP00000501161.1:n.631C>T
ENST00000302118.5:c.1781C>T MANE Select	ENSP00000303208.5:p.Ala594Val
ENST00000490692.1:n.2327C>T
NM_174936.3:c.1781C>T , LRG_275t1:c.1781C>T	NP_777596.2:p.Ala594Val
NR_110451.1:n.1388C>T
XM_011541193.1:c.902C>T	XP_011539495.1:p.Ala301Val
NM_174936.4:c.1781C>T MANE Select	NP_777596.2:p.Ala594Val
NR_110451.2:n.1388C>T