Canonical Allele Identifier: CA1167986541
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063528G= , CM000663.2:g.55063528G= GRCh38
NC_000001.10:g.55529201G= , CM000663.1:g.55529201G= GRCh37
NC_000001.9:g.55301789G= NCBI36
NG_009061.1:g.28982G= , LRG_275:g.28982G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*363G= ENSP00000501161.2:n.*363G=
ENST00000710286.1:c.2380G= ENSP00000518176.1:p.Val794=
ENST00000673903.1:c.1648G= ENSP00000501257.1:p.Val550=
ENST00000673913.1:c.873G= ENSP00000501161.1:n.873G=
ENST00000302118.5:c.2023G= MANE Select ENSP00000303208.5:p.Val675=
ENST00000490692.1:n.2569G=
NM_174936.3:c.2023G= , LRG_275t1:c.2023G= NP_777596.2:p.Val675=
NR_110451.1:n.1630G=
XM_011541193.1:c.1144G= XP_011539495.1:p.Val382=
NM_174936.4:c.2023G= MANE Select NP_777596.2:p.Val675=
NR_110451.2:n.1630G=