Canonical Allele Identifier: CA340482819

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55039957-G-T
• MyVariant Identifiers: chr1:g.55505630G>T (hg19) ; chr1:g.55039957G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039957G>T , CM000663.2:g.55039957G>T	GRCh38
NC_000001.10:g.55505630G>T , CM000663.1:g.55505630G>T	GRCh37
NC_000001.9:g.55278218G>T	NCBI36
NG_009061.1:g.5411G>T , LRG_275:g.5411G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.120G>T	ENSP00000501161.2:p.Glu40Asp
ENST00000710286.1:c.477G>T	ENSP00000518176.1:p.Glu159Asp
ENST00000673726.1:c.120G>T	ENSP00000501004.1:p.Glu40Asp
ENST00000302118.5:c.120G>T MANE Select	ENSP00000303208.5:p.Glu40Asp
NM_174936.3:c.120G>T , LRG_275t1:c.120G>T	NP_777596.2:p.Glu40Asp
NM_174936.4:c.120G>T MANE Select	NP_777596.2:p.Glu40Asp