Canonical Allele Identifier: CA417960650

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529134C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063461C>T , CM000663.2:g.55063461C>T	GRCh38
NC_000001.10:g.55529134C>T , CM000663.1:g.55529134C>T	GRCh37
NC_000001.9:g.55301722C>T	NCBI36
NG_009061.1:g.28915C>T , LRG_275:g.28915C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*296C>T	ENSP00000501161.2:n.*296C>T
ENST00000710286.1:c.2313C>T	ENSP00000518176.1:p.Asn771=
ENST00000673903.1:c.1581C>T	ENSP00000501257.1:p.Asn527=
ENST00000673913.1:c.806C>T	ENSP00000501161.1:n.806C>T
ENST00000302118.5:c.1956C>T MANE Select	ENSP00000303208.5:p.Asn652=
ENST00000490692.1:n.2502C>T
NM_174936.3:c.1956C>T , LRG_275t1:c.1956C>T	NP_777596.2:p.Asn652=
NR_110451.1:n.1563C>T
XM_011541193.1:c.1077C>T	XP_011539495.1:p.Asn359=
NM_174936.4:c.1956C>T MANE Select	NP_777596.2:p.Asn652=
NR_110451.2:n.1563C>T