Canonical Allele Identifier: CA340483767
Gene: PCSK9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55043975G>A , CM000663.2:g.55043975G>A GRCh38
NC_000001.10:g.55509648G>A , CM000663.1:g.55509648G>A GRCh37
NC_000001.9:g.55282236G>A NCBI36
NG_009061.1:g.9429G>A , LRG_275:g.9429G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.340G>A ENSP00000501161.2:p.Val114Ile
ENST00000710286.1:c.697G>A ENSP00000518176.1:p.Val233Ile
ENST00000673662.1:n.10G>A
ENST00000673726.1:c.340G>A ENSP00000501004.1:p.Val114Ile
ENST00000673903.1:c.-36G>A ENSP00000501257.1:n.-36G>A
ENST00000302118.5:c.340G>A MANE Select ENSP00000303208.5:p.Val114Ile
NM_174936.3:c.340G>A , LRG_275t1:c.340G>A NP_777596.2:p.Val114Ile
NR_110451.1:n.182+3572G>A
NM_174936.4:c.340G>A MANE Select NP_777596.2:p.Val114Ile
NR_110451.2:n.182+3572G>A