Canonical Allele Identifier: CA417960527

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527127G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061454G>A , CM000663.2:g.55061454G>A	GRCh38
NC_000001.10:g.55527127G>A , CM000663.1:g.55527127G>A	GRCh37
NC_000001.9:g.55299715G>A	NCBI36
NG_009061.1:g.26908G>A , LRG_275:g.26908G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*101G>A	ENSP00000501161.2:n.*101G>A
ENST00000710286.1:c.2118G>A	ENSP00000518176.1:p.Gln706=
ENST00000673903.1:c.1386G>A	ENSP00000501257.1:p.Gln462=
ENST00000673913.1:c.611G>A	ENSP00000501161.1:n.611G>A
ENST00000302118.5:c.1761G>A MANE Select	ENSP00000303208.5:p.Gln587=
ENST00000490692.1:n.2307G>A
NM_174936.3:c.1761G>A , LRG_275t1:c.1761G>A	NP_777596.2:p.Gln587=
NR_110451.1:n.1368G>A
XM_011541193.1:c.882G>A	XP_011539495.1:p.Gln294=
NM_174936.4:c.1761G>A MANE Select	NP_777596.2:p.Gln587=
NR_110451.2:n.1368G>A