Canonical Allele Identifier: CA417957350

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55039936-C-T
• MyVariant Identifiers: chr1:g.55505609C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039936C>T , CM000663.2:g.55039936C>T	GRCh38
NC_000001.10:g.55505609C>T , CM000663.1:g.55505609C>T	GRCh37
NC_000001.9:g.55278197C>T	NCBI36
NG_009061.1:g.5390C>T , LRG_275:g.5390C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.99C>T	ENSP00000501161.2:p.Asp33=
ENST00000710286.1:c.456C>T	ENSP00000518176.1:p.Asp152=
ENST00000673726.1:c.99C>T	ENSP00000501004.1:p.Asp33=
ENST00000302118.5:c.99C>T MANE Select	ENSP00000303208.5:p.Asp33=
NM_174936.3:c.99C>T , LRG_275t1:c.99C>T	NP_777596.2:p.Asp33=
NM_174936.4:c.99C>T MANE Select	NP_777596.2:p.Asp33=