Canonical Allele Identifier: CA22760878

Gene: PCSK9

Linked Data

• dbSNP Id: rs1023971376
• gnomAD v2: 1-55518826-C-G
• gnomAD v3: 1-55053153-C-G
• gnomAD v4: 1-55053153-C-G
• MyVariant Identifiers: chr1:g.55518826C>G (hg19) ; chr1:g.55053153C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55053153C>G , CM000663.2:g.55053153C>G	GRCh38
NC_000001.10:g.55518826C>G , CM000663.1:g.55518826C>G	GRCh37
NC_000001.9:g.55291414C>G	NCBI36
NG_009061.1:g.18607C>G , LRG_275:g.18607C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.799+362C>G	ENSP00000501161.2:n.799+362C>G
ENST00000710286.1:c.1156+362C>G	ENSP00000518176.1:n.1156+362C>G
ENST00000673903.1:c.424+362C>G	ENSP00000501257.1:n.424+362C>G
ENST00000302118.5:c.799+362C>G MANE Select	ENSP00000303208.5:n.799+362C>G
ENST00000490692.1:n.1620+362C>G
NM_174936.3:c.799+362C>G , LRG_275t1:c.799+362C>G	NP_777596.2:n.799+362C>G
NR_110451.1:n.458+362C>G
NM_174936.4:c.799+362C>G MANE Select	NP_777596.2:n.799+362C>G
NR_110451.2:n.458+362C>G