Canonical Allele Identifier: CA417960421

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059584-C-T
• MyVariant Identifiers: chr1:g.55525257C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059584C>T , CM000663.2:g.55059584C>T	GRCh38
NC_000001.10:g.55525257C>T , CM000663.1:g.55525257C>T	GRCh37
NC_000001.9:g.55297845C>T	NCBI36
NG_009061.1:g.25038C>T , LRG_275:g.25038C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1602C>T	ENSP00000501161.2:p.Cys534=
ENST00000710286.1:c.1959C>T	ENSP00000518176.1:p.Cys653=
ENST00000673903.1:c.1227C>T	ENSP00000501257.1:p.Cys409=
ENST00000673913.1:c.342C>T	ENSP00000501161.1:p.Cys114=
ENST00000302118.5:c.1602C>T MANE Select	ENSP00000303208.5:p.Cys534=
ENST00000490692.1:n.2227+937C>T
NM_174936.3:c.1602C>T , LRG_275t1:c.1602C>T	NP_777596.2:p.Cys534=
NR_110451.1:n.1209C>T
XM_011541193.1:c.723C>T	XP_011539495.1:p.Cys241=
NM_174936.4:c.1602C>T MANE Select	NP_777596.2:p.Cys534=
NR_110451.2:n.1209C>T