Canonical Allele Identifier: CA340480407

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527171A>C (hg19) ; chr1:g.55061498A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061498A>C , CM000663.2:g.55061498A>C	GRCh38
NC_000001.10:g.55527171A>C , CM000663.1:g.55527171A>C	GRCh37
NC_000001.9:g.55299759A>C	NCBI36
NG_009061.1:g.26952A>C , LRG_275:g.26952A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*145A>C	ENSP00000501161.2:n.*145A>C
ENST00000710286.1:c.2162A>C	ENSP00000518176.1:p.His721Pro
ENST00000673903.1:c.1430A>C	ENSP00000501257.1:p.His477Pro
ENST00000673913.1:c.655A>C	ENSP00000501161.1:n.655A>C
ENST00000302118.5:c.1805A>C MANE Select	ENSP00000303208.5:p.His602Pro
ENST00000490692.1:n.2351A>C
NM_174936.3:c.1805A>C , LRG_275t1:c.1805A>C	NP_777596.2:p.His602Pro
NR_110451.1:n.1412A>C
XM_011541193.1:c.926A>C	XP_011539495.1:p.His309Pro
NM_174936.4:c.1805A>C MANE Select	NP_777596.2:p.His602Pro
NR_110451.2:n.1412A>C