Canonical Allele Identifier: CA340480481

Gene: PCSK9

Linked Data

• dbSNP Id: rs1229958448
• MyVariant Identifiers: chr1:g.55527204A>C (hg19) ; chr1:g.55061531A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061531A>C , CM000663.2:g.55061531A>C	GRCh38
NC_000001.10:g.55527204A>C , CM000663.1:g.55527204A>C	GRCh37
NC_000001.9:g.55299792A>C	NCBI36
NG_009061.1:g.26985A>C , LRG_275:g.26985A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*178A>C	ENSP00000501161.2:n.*178A>C
ENST00000710286.1:c.2195A>C	ENSP00000518176.1:p.His732Pro
ENST00000673903.1:c.1463A>C	ENSP00000501257.1:p.His488Pro
ENST00000673913.1:c.688A>C	ENSP00000501161.1:n.688A>C
ENST00000302118.5:c.1838A>C MANE Select	ENSP00000303208.5:p.His613Pro
ENST00000490692.1:n.2384A>C
NM_174936.3:c.1838A>C , LRG_275t1:c.1838A>C	NP_777596.2:p.His613Pro
NR_110451.1:n.1445A>C
XM_011541193.1:c.959A>C	XP_011539495.1:p.His320Pro
NM_174936.4:c.1838A>C MANE Select	NP_777596.2:p.His613Pro
NR_110451.2:n.1445A>C