Canonical Allele Identifier: CA2743687368

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063660C>G , CM000663.2:g.55063660C>G	GRCh38
NC_000001.10:g.55529333C>G , CM000663.1:g.55529333C>G	GRCh37
NC_000001.9:g.55301921C>G	NCBI36
NG_009061.1:g.29114C>G , LRG_275:g.29114C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*495C>G	ENSP00000501161.2:n.*495C>G
ENST00000710286.1:c.*76C>G	ENSP00000518176.1:n.*76C>G
ENST00000673903.1:c.*76C>G	ENSP00000501257.1:n.*76C>G
ENST00000302118.5:c.*76C>G MANE Select	ENSP00000303208.5:n.*76C>G
ENST00000490692.1:n.2701C>G
NM_174936.3:c.*76C>G , LRG_275t1:c.*76C>G	NP_777596.2:n.*76C>G
NR_110451.1:n.1762C>G
XM_011541193.1:c.*76C>G	XP_011539495.1:n.*76C>G
NM_174936.4:c.*76C>G MANE Select	NP_777596.2:n.*76C>G
NR_110451.2:n.1762C>G