Canonical Allele Identifier: CA340478812

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 440721
• ClinVar RCV Id: RCV000508921
• dbSNP Id: rs1553137693
• MyVariant Identifiers: chr1:g.55524219A>G (hg19) ; chr1:g.55058546A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55058546A>G , CM000663.2:g.55058546A>G	GRCh38
NC_000001.10:g.55524219A>G , CM000663.1:g.55524219A>G	GRCh37
NC_000001.9:g.55296807A>G	NCBI36
NG_009061.1:g.24000A>G , LRG_275:g.24000A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.1402A>G	ENSP00000501161.2:p.Thr468Ala
ENST00000710286.1:c.1759A>G	ENSP00000518176.1:p.Thr587Ala
ENST00000673903.1:c.1027A>G	ENSP00000501257.1:p.Thr343Ala
ENST00000673913.1:c.142A>G	ENSP00000501161.1:p.Thr48Ala
ENST00000302118.5:c.1402A>G MANE Select	ENSP00000303208.5:p.Thr468Ala
ENST00000490692.1:n.2126A>G
NM_174936.3:c.1402A>G , LRG_275t1:c.1402A>G	NP_777596.2:p.Thr468Ala
NR_110451.1:n.1009A>G
XM_011541193.1:c.523A>G	XP_011539495.1:p.Thr175Ala
NM_174936.4:c.1402A>G MANE Select	NP_777596.2:p.Thr468Ala
NR_110451.2:n.1009A>G