Canonical Allele Identifier: CA340479763

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059526-T-A
• MyVariant Identifiers: chr1:g.55525199T>A (hg19) ; chr1:g.55059526T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059526T>A , CM000663.2:g.55059526T>A	GRCh38
NC_000001.10:g.55525199T>A , CM000663.1:g.55525199T>A	GRCh37
NC_000001.9:g.55297787T>A	NCBI36
NG_009061.1:g.24980T>A , LRG_275:g.24980T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1544T>A	ENSP00000501161.2:p.Phe515Tyr
ENST00000710286.1:c.1901T>A	ENSP00000518176.1:p.Phe634Tyr
ENST00000673903.1:c.1169T>A	ENSP00000501257.1:p.Phe390Tyr
ENST00000673913.1:c.284T>A	ENSP00000501161.1:p.Phe95Tyr
ENST00000302118.5:c.1544T>A MANE Select	ENSP00000303208.5:p.Phe515Tyr
ENST00000490692.1:n.2227+879T>A
NM_174936.3:c.1544T>A , LRG_275t1:c.1544T>A	NP_777596.2:p.Phe515Tyr
NR_110451.1:n.1151T>A
XM_011541193.1:c.665T>A	XP_011539495.1:p.Phe222Tyr
NM_174936.4:c.1544T>A MANE Select	NP_777596.2:p.Phe515Tyr
NR_110451.2:n.1151T>A