Canonical Allele Identifier: CA22760849

Gene: PCSK9

Linked Data

• dbSNP Id: rs79512647
• gnomAD v2: 1-55518791-G-A
• gnomAD v3: 1-55053118-G-A
• gnomAD v4: 1-55053118-G-A
• MyVariant Identifiers: chr1:g.55518791G>A (hg19) ; chr1:g.55053118G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55053118G>A , CM000663.2:g.55053118G>A	GRCh38
NC_000001.10:g.55518791G>A , CM000663.1:g.55518791G>A	GRCh37
NC_000001.9:g.55291379G>A	NCBI36
NG_009061.1:g.18572G>A , LRG_275:g.18572G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.799+327G>A	ENSP00000501161.2:n.799+327G>A
ENST00000710286.1:c.1156+327G>A	ENSP00000518176.1:n.1156+327G>A
ENST00000673903.1:c.424+327G>A	ENSP00000501257.1:n.424+327G>A
ENST00000302118.5:c.799+327G>A MANE Select	ENSP00000303208.5:n.799+327G>A
ENST00000490692.1:n.1620+327G>A
NM_174936.3:c.799+327G>A , LRG_275t1:c.799+327G>A	NP_777596.2:n.799+327G>A
NR_110451.1:n.458+327G>A
NM_174936.4:c.799+327G>A MANE Select	NP_777596.2:n.799+327G>A
NR_110451.2:n.458+327G>A