Canonical Allele Identifier: CA1167984997
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs1644745781
gnomAD v3: 1-55059760-G-A
gnomAD v4: 1-55059760-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059760G>A , CM000663.2:g.55059760G>A GRCh38
NC_000001.10:g.55525433G>A , CM000663.1:g.55525433G>A GRCh37
NC_000001.9:g.55298021G>A NCBI36
NG_009061.1:g.25214G>A , LRG_275:g.25214G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1681+97G>A ENSP00000501161.2:n.1681+97G>A
ENST00000710286.1:c.2038+97G>A ENSP00000518176.1:n.2038+97G>A
ENST00000673903.1:c.1306+97G>A ENSP00000501257.1:n.1306+97G>A
ENST00000673913.1:c.421+97G>A ENSP00000501161.1:n.421+97G>A
ENST00000302118.5:c.1681+97G>A MANE Select ENSP00000303208.5:n.1681+97G>A
ENST00000490692.1:n.2227+1113G>A
NM_174936.3:c.1681+97G>A , LRG_275t1:c.1681+97G>A NP_777596.2:n.1681+97G>A
NR_110451.1:n.1288+97G>A
XM_011541193.1:c.802+97G>A XP_011539495.1:n.802+97G>A
NM_174936.4:c.1681+97G>A MANE Select NP_777596.2:n.1681+97G>A
NR_110451.2:n.1288+97G>A