Canonical Allele Identifier: CA417960293

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 2978779
• ClinVar RCV Id: RCV003839425
• MyVariant Identifiers: chr1:g.55524233A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55058560A>G , CM000663.2:g.55058560A>G	GRCh38
NC_000001.10:g.55524233A>G , CM000663.1:g.55524233A>G	GRCh37
NC_000001.9:g.55296821A>G	NCBI36
NG_009061.1:g.24014A>G , LRG_275:g.24014A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1416A>G	ENSP00000501161.2:p.Thr472=
ENST00000710286.1:c.1773A>G	ENSP00000518176.1:p.Thr591=
ENST00000673903.1:c.1041A>G	ENSP00000501257.1:p.Thr347=
ENST00000673913.1:c.156A>G	ENSP00000501161.1:p.Thr52=
ENST00000302118.5:c.1416A>G MANE Select	ENSP00000303208.5:p.Thr472=
ENST00000490692.1:n.2140A>G
NM_174936.3:c.1416A>G , LRG_275t1:c.1416A>G	NP_777596.2:p.Thr472=
NR_110451.1:n.1023A>G
XM_011541193.1:c.537A>G	XP_011539495.1:p.Thr179=
NM_174936.4:c.1416A>G MANE Select	NP_777596.2:p.Thr472=
NR_110451.2:n.1023A>G