Canonical Allele Identifier: CA340480069

Gene: PCSK9

Linked Data

• dbSNP Id: rs1416217632
• gnomAD v2: 1-55525310-G-A
• gnomAD v4: 1-55059637-G-A
• MyVariant Identifiers: chr1:g.55525310G>A (hg19) ; chr1:g.55059637G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059637G>A , CM000663.2:g.55059637G>A	GRCh38
NC_000001.10:g.55525310G>A , CM000663.1:g.55525310G>A	GRCh37
NC_000001.9:g.55297898G>A	NCBI36
NG_009061.1:g.25091G>A , LRG_275:g.25091G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1655G>A	ENSP00000501161.2:p.Cys552Tyr
ENST00000710286.1:c.2012G>A	ENSP00000518176.1:p.Cys671Tyr
ENST00000673903.1:c.1280G>A	ENSP00000501257.1:p.Cys427Tyr
ENST00000673913.1:c.395G>A	ENSP00000501161.1:p.Cys132Tyr
ENST00000302118.5:c.1655G>A MANE Select	ENSP00000303208.5:p.Cys552Tyr
ENST00000490692.1:n.2227+990G>A
NM_174936.3:c.1655G>A , LRG_275t1:c.1655G>A	NP_777596.2:p.Cys552Tyr
NR_110451.1:n.1262G>A
XM_011541193.1:c.776G>A	XP_011539495.1:p.Cys259Tyr
NM_174936.4:c.1655G>A MANE Select	NP_777596.2:p.Cys552Tyr
NR_110451.2:n.1262G>A