Canonical Allele Identifier: CA340480340
Gene: PCSK9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061469G>C , CM000663.2:g.55061469G>C GRCh38
NC_000001.10:g.55527142G>C , CM000663.1:g.55527142G>C GRCh37
NC_000001.9:g.55299730G>C NCBI36
NG_009061.1:g.26923G>C , LRG_275:g.26923G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*116G>C ENSP00000501161.2:n.*116G>C
ENST00000710286.1:c.2133G>C ENSP00000518176.1:p.Arg711Ser
ENST00000673903.1:c.1401G>C ENSP00000501257.1:p.Arg467Ser
ENST00000673913.1:c.626G>C ENSP00000501161.1:n.626G>C
ENST00000302118.5:c.1776G>C MANE Select ENSP00000303208.5:p.Arg592Ser
ENST00000490692.1:n.2322G>C
NM_174936.3:c.1776G>C , LRG_275t1:c.1776G>C NP_777596.2:p.Arg592Ser
NR_110451.1:n.1383G>C
XM_011541193.1:c.897G>C XP_011539495.1:p.Arg299Ser
NM_174936.4:c.1776G>C MANE Select NP_777596.2:p.Arg592Ser
NR_110451.2:n.1383G>C