Canonical Allele Identifier: CA417960550

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55061496-C-T
• MyVariant Identifiers: chr1:g.55527169C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061496C>T , CM000663.2:g.55061496C>T	GRCh38
NC_000001.10:g.55527169C>T , CM000663.1:g.55527169C>T	GRCh37
NC_000001.9:g.55299757C>T	NCBI36
NG_009061.1:g.26950C>T , LRG_275:g.26950C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*143C>T	ENSP00000501161.2:n.*143C>T
ENST00000710286.1:c.2160C>T	ENSP00000518176.1:p.Cys720=
ENST00000673903.1:c.1428C>T	ENSP00000501257.1:p.Cys476=
ENST00000673913.1:c.653C>T	ENSP00000501161.1:n.653C>T
ENST00000302118.5:c.1803C>T MANE Select	ENSP00000303208.5:p.Cys601=
ENST00000490692.1:n.2349C>T
NM_174936.3:c.1803C>T , LRG_275t1:c.1803C>T	NP_777596.2:p.Cys601=
NR_110451.1:n.1410C>T
XM_011541193.1:c.924C>T	XP_011539495.1:p.Cys308=
NM_174936.4:c.1803C>T MANE Select	NP_777596.2:p.Cys601=
NR_110451.2:n.1410C>T