Canonical Allele Identifier: CA037822

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 413320
• ClinVar RCV Id: RCV000456523 ; RCV000775289
• dbSNP Id: rs763241481
• ExAC: 1:55525154 C / G
• gnomAD v2: 1-55525154-C-G
• gnomAD v3: 1-55059481-C-G
• gnomAD v4: 1-55059481-C-G
• MyVariant Identifiers: chr1:g.55525154C>G (hg19) ; chr1:g.55059481C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059481C>G , CM000663.2:g.55059481C>G	GRCh38
NC_000001.10:g.55525154C>G , CM000663.1:g.55525154C>G	GRCh37
NC_000001.9:g.55297742C>G	NCBI36
NG_009061.1:g.24935C>G , LRG_275:g.24935C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1504-5C>G	ENSP00000501161.2:n.1504-5C>G
ENST00000710286.1:c.1861-5C>G	ENSP00000518176.1:n.1861-5C>G
ENST00000673903.1:c.1129-5C>G	ENSP00000501257.1:n.1129-5C>G
ENST00000673913.1:c.244-5C>G	ENSP00000501161.1:n.244-5C>G
ENST00000302118.5:c.1504-5C>G MANE Select	ENSP00000303208.5:n.1504-5C>G
ENST00000490692.1:n.2227+834C>G
NM_174936.3:c.1504-5C>G , LRG_275t1:c.1504-5C>G	NP_777596.2:n.1504-5C>G
NR_110451.1:n.1111-5C>G
XM_011541193.1:c.625-5C>G	XP_011539495.1:n.625-5C>G
NM_174936.4:c.1504-5C>G MANE Select	NP_777596.2:n.1504-5C>G
NR_110451.2:n.1111-5C>G