Canonical Allele Identifier: CA340479912

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059563-C-A
• MyVariant Identifiers: chr1:g.55525236C>A (hg19) ; chr1:g.55059563C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059563C>A , CM000663.2:g.55059563C>A	GRCh38
NC_000001.10:g.55525236C>A , CM000663.1:g.55525236C>A	GRCh37
NC_000001.9:g.55297824C>A	NCBI36
NG_009061.1:g.25017C>A , LRG_275:g.25017C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1581C>A	ENSP00000501161.2:p.Cys527Ter
ENST00000710286.1:c.1938C>A	ENSP00000518176.1:p.Cys646Ter
ENST00000673903.1:c.1206C>A	ENSP00000501257.1:p.Cys402Ter
ENST00000673913.1:c.321C>A	ENSP00000501161.1:p.Cys107Ter
ENST00000302118.5:c.1581C>A MANE Select	ENSP00000303208.5:p.Cys527Ter
ENST00000490692.1:n.2227+916C>A
NM_174936.3:c.1581C>A , LRG_275t1:c.1581C>A	NP_777596.2:p.Cys527Ter
NR_110451.1:n.1188C>A
XM_011541193.1:c.702C>A	XP_011539495.1:p.Cys234Ter
NM_174936.4:c.1581C>A MANE Select	NP_777596.2:p.Cys527Ter
NR_110451.2:n.1188C>A