Canonical Allele Identifier: CA417960667

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529161C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063488C>T , CM000663.2:g.55063488C>T	GRCh38
NC_000001.10:g.55529161C>T , CM000663.1:g.55529161C>T	GRCh37
NC_000001.9:g.55301749C>T	NCBI36
NG_009061.1:g.28942C>T , LRG_275:g.28942C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*323C>T	ENSP00000501161.2:n.*323C>T
ENST00000710286.1:c.2340C>T	ENSP00000518176.1:p.Val780=
ENST00000673903.1:c.1608C>T	ENSP00000501257.1:p.Val536=
ENST00000673913.1:c.833C>T	ENSP00000501161.1:n.833C>T
ENST00000302118.5:c.1983C>T MANE Select	ENSP00000303208.5:p.Val661=
ENST00000490692.1:n.2529C>T
NM_174936.3:c.1983C>T , LRG_275t1:c.1983C>T	NP_777596.2:p.Val661=
NR_110451.1:n.1590C>T
XM_011541193.1:c.1104C>T	XP_011539495.1:p.Val368=
NM_174936.4:c.1983C>T MANE Select	NP_777596.2:p.Val661=
NR_110451.2:n.1590C>T