Canonical Allele Identifier: CA1167984416
Community Standard Title: NM_174936.4(PCSK9):c.1399C= (p.Pro467=)
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55058543C= , CM000663.2:g.55058543C= GRCh38
NC_000001.10:g.55524216C= , CM000663.1:g.55524216C= GRCh37
NC_000001.9:g.55296804C= NCBI36
NG_009061.1:g.23997C= , LRG_275:g.23997C=

Transcript Alleles

HGVS Amino-acid Change
NM_174936.4:c.1399C= MANE Select NP_777596.2:p.Pro467=
ENST00000302118.5:c.1399C= MANE Select ENSP00000303208.5:p.Pro467=
NM_174936.3:c.1399C= , LRG_275t1:c.1399C= NP_777596.2:p.Pro467=
NR_110451.1:n.1006C=
NR_110451.2:n.1006C=
ENST00000490692.1:n.2123C=
ENST00000673903.1:c.1024C= ENSP00000501257.1:p.Pro342=
ENST00000673913.1:c.139C= ENSP00000501161.1:p.Pro47=
ENST00000673913.2:c.1399C= ENSP00000501161.2:p.Pro467=
ENST00000710286.1:c.1756C= ENSP00000518176.1:p.Pro586=
XM_011541193.1:c.520C= XP_011539495.1:p.Pro174=