Canonical Allele Identifier: CA038314

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 630166
• ClinVar RCV Id: RCV000775292 ; RCV001517505
• dbSNP Id: rs181296942
• ExAC: 1:55525346 T / C
• gnomAD v2: 1-55525346-T-C
• gnomAD v3: 1-55059673-T-C
• gnomAD v4: 1-55059673-T-C
• MyVariant Identifiers: chr1:g.55525346T>C (hg19) ; chr1:g.55059673T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059673T>C , CM000663.2:g.55059673T>C	GRCh38
NC_000001.10:g.55525346T>C , CM000663.1:g.55525346T>C	GRCh37
NC_000001.9:g.55297934T>C	NCBI36
NG_009061.1:g.25127T>C , LRG_275:g.25127T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1681+10T>C	ENSP00000501161.2:n.1681+10T>C
ENST00000710286.1:c.2038+10T>C	ENSP00000518176.1:n.2038+10T>C
ENST00000673903.1:c.1306+10T>C	ENSP00000501257.1:n.1306+10T>C
ENST00000673913.1:c.421+10T>C	ENSP00000501161.1:n.421+10T>C
ENST00000302118.5:c.1681+10T>C MANE Select	ENSP00000303208.5:n.1681+10T>C
ENST00000490692.1:n.2227+1026T>C
NM_174936.3:c.1681+10T>C , LRG_275t1:c.1681+10T>C	NP_777596.2:n.1681+10T>C
NR_110451.1:n.1288+10T>C
XM_011541193.1:c.802+10T>C	XP_011539495.1:n.802+10T>C
NM_174936.4:c.1681+10T>C MANE Select	NP_777596.2:n.1681+10T>C
NR_110451.2:n.1288+10T>C