Canonical Allele Identifier: CA340480515

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527222A>G (hg19) ; chr1:g.55061549A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061549A>G , CM000663.2:g.55061549A>G	GRCh38
NC_000001.10:g.55527222A>G , CM000663.1:g.55527222A>G	GRCh37
NC_000001.9:g.55299810A>G	NCBI36
NG_009061.1:g.27003A>G , LRG_275:g.27003A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*196A>G	ENSP00000501161.2:n.*196A>G
ENST00000710286.1:c.2213A>G	ENSP00000518176.1:p.Gln738Arg
ENST00000673903.1:c.1481A>G	ENSP00000501257.1:p.Gln494Arg
ENST00000673913.1:c.706A>G	ENSP00000501161.1:n.706A>G
ENST00000302118.5:c.1856A>G MANE Select	ENSP00000303208.5:p.Gln619Arg
ENST00000490692.1:n.2402A>G
NM_174936.3:c.1856A>G , LRG_275t1:c.1856A>G	NP_777596.2:p.Gln619Arg
NR_110451.1:n.1463A>G
XM_011541193.1:c.977A>G	XP_011539495.1:p.Gln326Arg
NM_174936.4:c.1856A>G MANE Select	NP_777596.2:p.Gln619Arg
NR_110451.2:n.1463A>G