Canonical Allele Identifier: CA22765566
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 982870
ClinVar RCV Id: RCV001262589
dbSNP Id: rs746457760
gnomAD v4: 1-55059552-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059552G>C , CM000663.2:g.55059552G>C GRCh38
NC_000001.10:g.55525225G>C , CM000663.1:g.55525225G>C GRCh37
NC_000001.9:g.55297813G>C NCBI36
NG_009061.1:g.25006G>C , LRG_275:g.25006G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1570G>C ENSP00000501161.2:p.Ala524Pro
ENST00000710286.1:c.1927G>C ENSP00000518176.1:p.Ala643Pro
ENST00000673903.1:c.1195G>C ENSP00000501257.1:p.Ala399Pro
ENST00000673913.1:c.310G>C ENSP00000501161.1:p.Ala104Pro
ENST00000302118.5:c.1570G>C MANE Select ENSP00000303208.5:p.Ala524Pro
ENST00000490692.1:n.2227+905G>C
NM_174936.3:c.1570G>C , LRG_275t1:c.1570G>C NP_777596.2:p.Ala524Pro
NR_110451.1:n.1177G>C
XM_011541193.1:c.691G>C XP_011539495.1:p.Ala231Pro
NM_174936.4:c.1570G>C MANE Select NP_777596.2:p.Ala524Pro
NR_110451.2:n.1177G>C