Canonical Allele Identifier: CA417957263
Gene: PCSK9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55505552A>T (hg19)

Genomic Alleles

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

Transcript Alleles

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