Canonical Allele Identifier: CA039660

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 630600
• ClinVar RCV Id: RCV000776505 ; RCV001759463
• dbSNP Id: rs758249397
• ExAC: 1:55529093 C / G
• gnomAD v2: 1-55529093-C-G
• gnomAD v3: 1-55063420-C-G
• gnomAD v4: 1-55063420-C-G
• MyVariant Identifiers: chr1:g.55529093C>G (hg19) ; chr1:g.55063420C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063420C>G , CM000663.2:g.55063420C>G	GRCh38
NC_000001.10:g.55529093C>G , CM000663.1:g.55529093C>G	GRCh37
NC_000001.9:g.55301681C>G	NCBI36
NG_009061.1:g.28874C>G , LRG_275:g.28874C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.*255C>G	ENSP00000501161.2:n.*255C>G
ENST00000710286.1:c.2272C>G	ENSP00000518176.1:p.Pro758Ala
ENST00000673903.1:c.1540C>G	ENSP00000501257.1:p.Pro514Ala
ENST00000673913.1:c.765C>G	ENSP00000501161.1:n.765C>G
ENST00000302118.5:c.1915C>G MANE Select	ENSP00000303208.5:p.Pro639Ala
ENST00000490692.1:n.2461C>G
NM_174936.3:c.1915C>G , LRG_275t1:c.1915C>G	NP_777596.2:p.Pro639Ala
NR_110451.1:n.1522C>G
XM_011541193.1:c.1036C>G	XP_011539495.1:p.Pro346Ala
NM_174936.4:c.1915C>G MANE Select	NP_777596.2:p.Pro639Ala
NR_110451.2:n.1522C>G