Canonical Allele Identifier: CA340479991

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059600-C-A
• MyVariant Identifiers: chr1:g.55525273C>A (hg19) ; chr1:g.55059600C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059600C>A , CM000663.2:g.55059600C>A	GRCh38
NC_000001.10:g.55525273C>A , CM000663.1:g.55525273C>A	GRCh37
NC_000001.9:g.55297861C>A	NCBI36
NG_009061.1:g.25054C>A , LRG_275:g.25054C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1618C>A	ENSP00000501161.2:p.Pro540Thr
ENST00000710286.1:c.1975C>A	ENSP00000518176.1:p.Pro659Thr
ENST00000673903.1:c.1243C>A	ENSP00000501257.1:p.Pro415Thr
ENST00000673913.1:c.358C>A	ENSP00000501161.1:p.Pro120Thr
ENST00000302118.5:c.1618C>A MANE Select	ENSP00000303208.5:p.Pro540Thr
ENST00000490692.1:n.2227+953C>A
NM_174936.3:c.1618C>A , LRG_275t1:c.1618C>A	NP_777596.2:p.Pro540Thr
NR_110451.1:n.1225C>A
XM_011541193.1:c.739C>A	XP_011539495.1:p.Pro247Thr
NM_174936.4:c.1618C>A MANE Select	NP_777596.2:p.Pro540Thr
NR_110451.2:n.1225C>A