Canonical Allele Identifier: CA417960546

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527163C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061490C>A , CM000663.2:g.55061490C>A	GRCh38
NC_000001.10:g.55527163C>A , CM000663.1:g.55527163C>A	GRCh37
NC_000001.9:g.55299751C>A	NCBI36
NG_009061.1:g.26944C>A , LRG_275:g.26944C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*137C>A	ENSP00000501161.2:n.*137C>A
ENST00000710286.1:c.2154C>A	ENSP00000518176.1:p.Ser718=
ENST00000673903.1:c.1422C>A	ENSP00000501257.1:p.Ser474=
ENST00000673913.1:c.647C>A	ENSP00000501161.1:n.647C>A
ENST00000302118.5:c.1797C>A MANE Select	ENSP00000303208.5:p.Ser599=
ENST00000490692.1:n.2343C>A
NM_174936.3:c.1797C>A , LRG_275t1:c.1797C>A	NP_777596.2:p.Ser599=
NR_110451.1:n.1404C>A
XM_011541193.1:c.918C>A	XP_011539495.1:p.Ser306=
NM_174936.4:c.1797C>A MANE Select	NP_777596.2:p.Ser599=
NR_110451.2:n.1404C>A