Canonical Allele Identifier: CA340480907
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 627977
ClinVar RCV Id: RCV000772248
dbSNP Id: rs1557509907

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063556T>A , CM000663.2:g.55063556T>A GRCh38
NC_000001.10:g.55529229T>A , CM000663.1:g.55529229T>A GRCh37
NC_000001.9:g.55301817T>A NCBI36
NG_009061.1:g.29010T>A , LRG_275:g.29010T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*391T>A ENSP00000501161.2:n.*391T>A
ENST00000710286.1:c.2408T>A ENSP00000518176.1:p.Leu803Gln
ENST00000673903.1:c.1676T>A ENSP00000501257.1:p.Leu559Gln
ENST00000302118.5:c.2051T>A MANE Select ENSP00000303208.5:p.Leu684Gln
ENST00000490692.1:n.2597T>A
NM_174936.3:c.2051T>A , LRG_275t1:c.2051T>A NP_777596.2:p.Leu684Gln
NR_110451.1:n.1658T>A
XM_011541193.1:c.1172T>A XP_011539495.1:p.Leu391Gln
NM_174936.4:c.2051T>A MANE Select NP_777596.2:p.Leu684Gln
NR_110451.2:n.1658T>A