Canonical Allele Identifier: CA340473122

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 2568387
• ClinVar RCV Id: RCV003283624
• MyVariant Identifiers: chr1:g.55517984A>G (hg19) ; chr1:g.55052311A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55052311A>G , CM000663.2:g.55052311A>G	GRCh38
NC_000001.10:g.55517984A>G , CM000663.1:g.55517984A>G	GRCh37
NC_000001.9:g.55290572A>G	NCBI36
NG_009061.1:g.17765A>G , LRG_275:g.17765A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.557A>G	ENSP00000501161.2:p.Asp186Gly
ENST00000710286.1:c.914A>G	ENSP00000518176.1:p.Asp305Gly
ENST00000673726.1:c.*53A>G	ENSP00000501004.1:n.*53A>G
ENST00000673903.1:c.182A>G	ENSP00000501257.1:p.Asp61Gly
ENST00000302118.5:c.557A>G MANE Select	ENSP00000303208.5:p.Asp186Gly
ENST00000490692.1:n.1378A>G
NM_174936.3:c.557A>G , LRG_275t1:c.557A>G	NP_777596.2:p.Asp186Gly
NR_110451.1:n.216A>G
NM_174936.4:c.557A>G MANE Select	NP_777596.2:p.Asp186Gly
NR_110451.2:n.216A>G