Canonical Allele Identifier: CA1167978142
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55043976T= , CM000663.2:g.55043976T= GRCh38
NC_000001.10:g.55509649T= , CM000663.1:g.55509649T= GRCh37
NC_000001.9:g.55282237T= NCBI36
NG_009061.1:g.9430T= , LRG_275:g.9430T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.341T= ENSP00000501161.2:p.Val114=
ENST00000710286.1:c.698T= ENSP00000518176.1:p.Val233=
ENST00000673662.1:n.11T=
ENST00000673726.1:c.341T= ENSP00000501004.1:p.Val114=
ENST00000673903.1:c.-35T= ENSP00000501257.1:n.-35T=
ENST00000302118.5:c.341T= MANE Select ENSP00000303208.5:p.Val114=
NM_174936.3:c.341T= , LRG_275t1:c.341T= NP_777596.2:p.Val114=
NR_110451.1:n.182+3573T=
NM_174936.4:c.341T= MANE Select NP_777596.2:p.Val114=
NR_110451.2:n.182+3573T=