Canonical Allele Identifier: CA417960628

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529104C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063431C>G , CM000663.2:g.55063431C>G	GRCh38
NC_000001.10:g.55529104C>G , CM000663.1:g.55529104C>G	GRCh37
NC_000001.9:g.55301692C>G	NCBI36
NG_009061.1:g.28885C>G , LRG_275:g.28885C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*266C>G	ENSP00000501161.2:n.*266C>G
ENST00000710286.1:c.2283C>G	ENSP00000518176.1:p.Ser761=
ENST00000673903.1:c.1551C>G	ENSP00000501257.1:p.Ser517=
ENST00000673913.1:c.776C>G	ENSP00000501161.1:n.776C>G
ENST00000302118.5:c.1926C>G MANE Select	ENSP00000303208.5:p.Ser642=
ENST00000490692.1:n.2472C>G
NM_174936.3:c.1926C>G , LRG_275t1:c.1926C>G	NP_777596.2:p.Ser642=
NR_110451.1:n.1533C>G
XM_011541193.1:c.1047C>G	XP_011539495.1:p.Ser349=
NM_174936.4:c.1926C>G MANE Select	NP_777596.2:p.Ser642=
NR_110451.2:n.1533C>G