Canonical Allele Identifier: CA417960580

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527220T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061547T>G , CM000663.2:g.55061547T>G	GRCh38
NC_000001.10:g.55527220T>G , CM000663.1:g.55527220T>G	GRCh37
NC_000001.9:g.55299808T>G	NCBI36
NG_009061.1:g.27001T>G , LRG_275:g.27001T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*194T>G	ENSP00000501161.2:n.*194T>G
ENST00000710286.1:c.2211T>G	ENSP00000518176.1:p.Pro737=
ENST00000673903.1:c.1479T>G	ENSP00000501257.1:p.Pro493=
ENST00000673913.1:c.704T>G	ENSP00000501161.1:n.704T>G
ENST00000302118.5:c.1854T>G MANE Select	ENSP00000303208.5:p.Pro618=
ENST00000490692.1:n.2400T>G
NM_174936.3:c.1854T>G , LRG_275t1:c.1854T>G	NP_777596.2:p.Pro618=
NR_110451.1:n.1461T>G
XM_011541193.1:c.975T>G	XP_011539495.1:p.Pro325=
NM_174936.4:c.1854T>G MANE Select	NP_777596.2:p.Pro618=
NR_110451.2:n.1461T>G