Canonical Allele Identifier: CA340483816

Gene: PCSK9

Linked Data

• dbSNP Id: rs1302968528
• gnomAD v2: 1-55509672-T-A
• gnomAD v4: 1-55043999-T-A
• MyVariant Identifiers: chr1:g.55509672T>A (hg19) ; chr1:g.55043999T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043999T>A , CM000663.2:g.55043999T>A	GRCh38
NC_000001.10:g.55509672T>A , CM000663.1:g.55509672T>A	GRCh37
NC_000001.9:g.55282260T>A	NCBI36
NG_009061.1:g.9453T>A , LRG_275:g.9453T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.364T>A	ENSP00000501161.2:p.Phe122Ile
ENST00000710286.1:c.721T>A	ENSP00000518176.1:p.Phe241Ile
ENST00000673662.1:n.34T>A
ENST00000673726.1:c.364T>A	ENSP00000501004.1:p.Phe122Ile
ENST00000673903.1:c.-12T>A	ENSP00000501257.1:n.-12T>A
ENST00000302118.5:c.364T>A MANE Select	ENSP00000303208.5:p.Phe122Ile
NM_174936.3:c.364T>A , LRG_275t1:c.364T>A	NP_777596.2:p.Phe122Ile
NR_110451.1:n.182+3596T>A
NM_174936.4:c.364T>A MANE Select	NP_777596.2:p.Phe122Ile
NR_110451.2:n.182+3596T>A