Canonical Allele Identifier: CA340480338
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs1644758254
gnomAD v4: 1-55061468-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061468G>C , CM000663.2:g.55061468G>C GRCh38
NC_000001.10:g.55527141G>C , CM000663.1:g.55527141G>C GRCh37
NC_000001.9:g.55299729G>C NCBI36
NG_009061.1:g.26922G>C , LRG_275:g.26922G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*115G>C ENSP00000501161.2:n.*115G>C
ENST00000710286.1:c.2132G>C ENSP00000518176.1:p.Arg711Thr
ENST00000673903.1:c.1400G>C ENSP00000501257.1:p.Arg467Thr
ENST00000673913.1:c.625G>C ENSP00000501161.1:n.625G>C
ENST00000302118.5:c.1775G>C MANE Select ENSP00000303208.5:p.Arg592Thr
ENST00000490692.1:n.2321G>C
NM_174936.3:c.1775G>C , LRG_275t1:c.1775G>C NP_777596.2:p.Arg592Thr
NR_110451.1:n.1382G>C
XM_011541193.1:c.896G>C XP_011539495.1:p.Arg299Thr
NM_174936.4:c.1775G>C MANE Select NP_777596.2:p.Arg592Thr
NR_110451.2:n.1382G>C