Canonical Allele Identifier: CA417960381

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55525197T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059524T>G , CM000663.2:g.55059524T>G	GRCh38
NC_000001.10:g.55525197T>G , CM000663.1:g.55525197T>G	GRCh37
NC_000001.9:g.55297785T>G	NCBI36
NG_009061.1:g.24978T>G , LRG_275:g.24978T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1542T>G	ENSP00000501161.2:p.Ala514=
ENST00000710286.1:c.1899T>G	ENSP00000518176.1:p.Ala633=
ENST00000673903.1:c.1167T>G	ENSP00000501257.1:p.Ala389=
ENST00000673913.1:c.282T>G	ENSP00000501161.1:p.Ala94=
ENST00000302118.5:c.1542T>G MANE Select	ENSP00000303208.5:p.Ala514=
ENST00000490692.1:n.2227+877T>G
NM_174936.3:c.1542T>G , LRG_275t1:c.1542T>G	NP_777596.2:p.Ala514=
NR_110451.1:n.1149T>G
XM_011541193.1:c.663T>G	XP_011539495.1:p.Ala221=
NM_174936.4:c.1542T>G MANE Select	NP_777596.2:p.Ala514=
NR_110451.2:n.1149T>G