Canonical Allele Identifier: CA2645840811

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063788-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063788C>G , CM000663.2:g.55063788C>G	GRCh38
NC_000001.10:g.55529461C>G , CM000663.1:g.55529461C>G	GRCh37
NC_000001.9:g.55302049C>G	NCBI36
NG_009061.1:g.29242C>G , LRG_275:g.29242C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*623C>G	ENSP00000501161.2:n.*623C>G
ENST00000710286.1:c.*204C>G	ENSP00000518176.1:n.*204C>G
ENST00000673903.1:c.*204C>G	ENSP00000501257.1:n.*204C>G
ENST00000302118.5:c.*204C>G MANE Select	ENSP00000303208.5:n.*204C>G
ENST00000490692.1:n.2829C>G
NM_174936.3:c.*204C>G , LRG_275t1:c.*204C>G	NP_777596.2:n.*204C>G
NR_110451.1:n.1890C>G
XM_011541193.1:c.*204C>G	XP_011539495.1:n.*204C>G
NM_174936.4:c.*204C>G MANE Select	NP_777596.2:n.*204C>G
NR_110451.2:n.1890C>G