Canonical Allele Identifier: CA039391

Gene: PCSK9

Linked Data

• dbSNP Id: rs781268309
• ExAC: 1:55529010 A / G
• gnomAD v2: 1-55529010-A-G
• gnomAD v3: 1-55063337-A-G
• gnomAD v4: 1-55063337-A-G
• MyVariant Identifiers: chr1:g.55529010A>G (hg19) ; chr1:g.55063337A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063337A>G , CM000663.2:g.55063337A>G	GRCh38
NC_000001.10:g.55529010A>G , CM000663.1:g.55529010A>G	GRCh37
NC_000001.9:g.55301598A>G	NCBI36
NG_009061.1:g.28791A>G , LRG_275:g.28791A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*204-32A>G	ENSP00000501161.2:n.*204-32A>G
ENST00000710286.1:c.2221-32A>G	ENSP00000518176.1:n.2221-32A>G
ENST00000673903.1:c.1489-32A>G	ENSP00000501257.1:n.1489-32A>G
ENST00000673913.1:c.714-32A>G	ENSP00000501161.1:n.714-32A>G
ENST00000302118.5:c.1864-32A>G MANE Select	ENSP00000303208.5:n.1864-32A>G
ENST00000490692.1:n.2410-32A>G
NM_174936.3:c.1864-32A>G , LRG_275t1:c.1864-32A>G	NP_777596.2:n.1864-32A>G
NR_110451.1:n.1471-32A>G
XM_011541193.1:c.985-32A>G	XP_011539495.1:n.985-32A>G
NM_174936.4:c.1864-32A>G MANE Select	NP_777596.2:n.1864-32A>G
NR_110451.2:n.1471-32A>G