Canonical Allele Identifier: CA417960571

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55061535-A-T
• MyVariant Identifiers: chr1:g.55527208A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061535A>T , CM000663.2:g.55061535A>T	GRCh38
NC_000001.10:g.55527208A>T , CM000663.1:g.55527208A>T	GRCh37
NC_000001.9:g.55299796A>T	NCBI36
NG_009061.1:g.26989A>T , LRG_275:g.26989A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*182A>T	ENSP00000501161.2:n.*182A>T
ENST00000710286.1:c.2199A>T	ENSP00000518176.1:p.Gly733=
ENST00000673903.1:c.1467A>T	ENSP00000501257.1:p.Gly489=
ENST00000673913.1:c.692A>T	ENSP00000501161.1:n.692A>T
ENST00000302118.5:c.1842A>T MANE Select	ENSP00000303208.5:p.Gly614=
ENST00000490692.1:n.2388A>T
NM_174936.3:c.1842A>T , LRG_275t1:c.1842A>T	NP_777596.2:p.Gly614=
NR_110451.1:n.1449A>T
XM_011541193.1:c.963A>T	XP_011539495.1:p.Gly321=
NM_174936.4:c.1842A>T MANE Select	NP_777596.2:p.Gly614=
NR_110451.2:n.1449A>T