Canonical Allele Identifier: CA22765590

Gene: PCSK9

Linked Data

• dbSNP Id: rs920130560
• gnomAD v4: 1-55059583-G-A
• MyVariant Identifiers: chr1:g.55525256G>A (hg19) ; chr1:g.55059583G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059583G>A , CM000663.2:g.55059583G>A	GRCh38
NC_000001.10:g.55525256G>A , CM000663.1:g.55525256G>A	GRCh37
NC_000001.9:g.55297844G>A	NCBI36
NG_009061.1:g.25037G>A , LRG_275:g.25037G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1601G>A	ENSP00000501161.2:p.Cys534Tyr
ENST00000710286.1:c.1958G>A	ENSP00000518176.1:p.Cys653Tyr
ENST00000673903.1:c.1226G>A	ENSP00000501257.1:p.Cys409Tyr
ENST00000673913.1:c.341G>A	ENSP00000501161.1:p.Cys114Tyr
ENST00000302118.5:c.1601G>A MANE Select	ENSP00000303208.5:p.Cys534Tyr
ENST00000490692.1:n.2227+936G>A
NM_174936.3:c.1601G>A , LRG_275t1:c.1601G>A	NP_777596.2:p.Cys534Tyr
NR_110451.1:n.1208G>A
XM_011541193.1:c.722G>A	XP_011539495.1:p.Cys241Tyr
NM_174936.4:c.1601G>A MANE Select	NP_777596.2:p.Cys534Tyr
NR_110451.2:n.1208G>A