Canonical Allele Identifier: CA340482748

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55039926-C-T
• MyVariant Identifiers: chr1:g.55505599C>T (hg19) ; chr1:g.55039926C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039926C>T , CM000663.2:g.55039926C>T	GRCh38
NC_000001.10:g.55505599C>T , CM000663.1:g.55505599C>T	GRCh37
NC_000001.9:g.55278187C>T	NCBI36
NG_009061.1:g.5380C>T , LRG_275:g.5380C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.89C>T	ENSP00000501161.2:p.Ala30Val
ENST00000710286.1:c.446C>T	ENSP00000518176.1:p.Ala149Val
ENST00000673726.1:c.89C>T	ENSP00000501004.1:p.Ala30Val
ENST00000302118.5:c.89C>T MANE Select	ENSP00000303208.5:p.Ala30Val
NM_174936.3:c.89C>T , LRG_275t1:c.89C>T	NP_777596.2:p.Ala30Val
NM_174936.4:c.89C>T MANE Select	NP_777596.2:p.Ala30Val