Canonical Allele Identifier: CA038854

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 375850
• ClinVar RCV Id: RCV000417320 ; RCV000771326 ; RCV002402115
• dbSNP Id: rs529912877
• ExAC: 1:55527139 C / G
• gnomAD v2: 1-55527139-C-G
• gnomAD v3: 1-55061466-C-G
• gnomAD v4: 1-55061466-C-G
• MyVariant Identifiers: chr1:g.55527139C>G (hg19) ; chr1:g.55061466C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061466C>G , CM000663.2:g.55061466C>G	GRCh38
NC_000001.10:g.55527139C>G , CM000663.1:g.55527139C>G	GRCh37
NC_000001.9:g.55299727C>G	NCBI36
NG_009061.1:g.26920C>G , LRG_275:g.26920C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*113C>G	ENSP00000501161.2:n.*113C>G
ENST00000710286.1:c.2130C>G	ENSP00000518176.1:p.His710Gln
ENST00000673903.1:c.1398C>G	ENSP00000501257.1:p.His466Gln
ENST00000673913.1:c.623C>G	ENSP00000501161.1:n.623C>G
ENST00000302118.5:c.1773C>G MANE Select	ENSP00000303208.5:p.His591Gln
ENST00000490692.1:n.2319C>G
NM_174936.3:c.1773C>G , LRG_275t1:c.1773C>G	NP_777596.2:p.His591Gln
NR_110451.1:n.1380C>G
XM_011541193.1:c.894C>G	XP_011539495.1:p.His298Gln
NM_174936.4:c.1773C>G MANE Select	NP_777596.2:p.His591Gln
NR_110451.2:n.1380C>G