Canonical Allele Identifier: CA417960566

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527196C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061523C>T , CM000663.2:g.55061523C>T	GRCh38
NC_000001.10:g.55527196C>T , CM000663.1:g.55527196C>T	GRCh37
NC_000001.9:g.55299784C>T	NCBI36
NG_009061.1:g.26977C>T , LRG_275:g.26977C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*170C>T	ENSP00000501161.2:n.*170C>T
ENST00000710286.1:c.2187C>T	ENSP00000518176.1:p.Val729=
ENST00000673903.1:c.1455C>T	ENSP00000501257.1:p.Val485=
ENST00000673913.1:c.680C>T	ENSP00000501161.1:n.680C>T
ENST00000302118.5:c.1830C>T MANE Select	ENSP00000303208.5:p.Val610=
ENST00000490692.1:n.2376C>T
NM_174936.3:c.1830C>T , LRG_275t1:c.1830C>T	NP_777596.2:p.Val610=
NR_110451.1:n.1437C>T
XM_011541193.1:c.951C>T	XP_011539495.1:p.Val317=
NM_174936.4:c.1830C>T MANE Select	NP_777596.2:p.Val610=
NR_110451.2:n.1437C>T