Canonical Allele Identifier: CA417957264
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2496752
ClinVar RCV Id: RCV003216329 RCV003581901
dbSNP Id: rs1240458161
gnomAD v3: 1-55039879-A-G
gnomAD v4: 1-55039879-A-G
MyVariant Identifiers: chr1:g.55505552A>G (hg19) chr1:g.55039879A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039879A>G , CM000663.2:g.55039879A>G GRCh38
NC_000001.10:g.55505552A>G , CM000663.1:g.55505552A>G GRCh37
NC_000001.9:g.55278140A>G NCBI36
NG_009061.1:g.5333A>G , LRG_275:g.5333A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.42A>G ENSP00000501161.2:p.Pro14=
ENST00000710286.1:c.399A>G ENSP00000518176.1:p.Pro133=
ENST00000673726.1:c.42A>G ENSP00000501004.1:p.Pro14=
ENST00000302118.5:c.42A>G MANE Select ENSP00000303208.5:p.Pro14=
NM_174936.3:c.42A>G , LRG_275t1:c.42A>G NP_777596.2:p.Pro14=
NM_174936.4:c.42A>G MANE Select NP_777596.2:p.Pro14=
Search 100 bp 5'
Search 100 bp 3'