Canonical Allele Identifier: CA340480567
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1781804
dbSNP Id: rs766081343
gnomAD v2: 1-55529055-G-C
gnomAD v4: 1-55063382-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063382G>C , CM000663.2:g.55063382G>C GRCh38
NC_000001.10:g.55529055G>C , CM000663.1:g.55529055G>C GRCh37
NC_000001.9:g.55301643G>C NCBI36
NG_009061.1:g.28836G>C , LRG_275:g.28836G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*217G>C ENSP00000501161.2:n.*217G>C
ENST00000710286.1:c.2234G>C ENSP00000518176.1:p.Cys745Ser
ENST00000673903.1:c.1502G>C ENSP00000501257.1:p.Cys501Ser
ENST00000673913.1:c.727G>C ENSP00000501161.1:n.727G>C
ENST00000302118.5:c.1877G>C MANE Select ENSP00000303208.5:p.Cys626Ser
ENST00000490692.1:n.2423G>C
NM_174936.3:c.1877G>C , LRG_275t1:c.1877G>C NP_777596.2:p.Cys626Ser
NR_110451.1:n.1484G>C
XM_011541193.1:c.998G>C XP_011539495.1:p.Cys333Ser
NM_174936.4:c.1877G>C MANE Select NP_777596.2:p.Cys626Ser
NR_110451.2:n.1484G>C