Canonical Allele Identifier: CA023132

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 36668
• ClinVar RCV Id: RCV000030347 ; RCV000252871 ; RCV000771160 ; RCV002054514
• dbSNP Id: rs28362269
• ExAC: 1:55525143 C / T
• gnomAD v2: 1-55525143-C-T
• gnomAD v3: 1-55059470-C-T
• gnomAD v4: 1-55059470-C-T
• MyVariant Identifiers: chr1:g.55525143C>T (hg19) ; chr1:g.55059470C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059470C>T , CM000663.2:g.55059470C>T	GRCh38
NC_000001.10:g.55525143C>T , CM000663.1:g.55525143C>T	GRCh37
NC_000001.9:g.55297731C>T	NCBI36
NG_009061.1:g.24924C>T , LRG_275:g.24924C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1504-16C>T	ENSP00000501161.2:n.1504-16C>T
ENST00000710286.1:c.1861-16C>T	ENSP00000518176.1:n.1861-16C>T
ENST00000673903.1:c.1129-16C>T	ENSP00000501257.1:n.1129-16C>T
ENST00000673913.1:c.244-16C>T	ENSP00000501161.1:n.244-16C>T
ENST00000302118.5:c.1504-16C>T MANE Select	ENSP00000303208.5:n.1504-16C>T
ENST00000490692.1:n.2227+823C>T
NM_174936.3:c.1504-16C>T , LRG_275t1:c.1504-16C>T	NP_777596.2:n.1504-16C>T
NR_110451.1:n.1111-16C>T
XM_011541193.1:c.625-16C>T	XP_011539495.1:n.625-16C>T
NM_174936.4:c.1504-16C>T MANE Select	NP_777596.2:n.1504-16C>T
NR_110451.2:n.1111-16C>T