Canonical Allele Identifier: CA340483553

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55043864-A-G
• MyVariant Identifiers: chr1:g.55509537A>G (hg19) ; chr1:g.55043864A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043864A>G , CM000663.2:g.55043864A>G	GRCh38
NC_000001.10:g.55509537A>G , CM000663.1:g.55509537A>G	GRCh37
NC_000001.9:g.55282125A>G	NCBI36
NG_009061.1:g.9318A>G , LRG_275:g.9318A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.229A>G	ENSP00000501161.2:p.Thr77Ala
ENST00000710286.1:c.586A>G	ENSP00000518176.1:p.Thr196Ala
ENST00000673726.1:c.229A>G	ENSP00000501004.1:p.Thr77Ala
ENST00000673903.1:c.-147A>G	ENSP00000501257.1:n.-147A>G
ENST00000302118.5:c.229A>G MANE Select	ENSP00000303208.5:p.Thr77Ala
NM_174936.3:c.229A>G , LRG_275t1:c.229A>G	NP_777596.2:p.Thr77Ala
NR_110451.1:n.182+3461A>G
NM_174936.4:c.229A>G MANE Select	NP_777596.2:p.Thr77Ala
NR_110451.2:n.182+3461A>G