Canonical Allele Identifier: CA340480447

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55061517-C-A
• MyVariant Identifiers: chr1:g.55527190C>A (hg19) ; chr1:g.55061517C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061517C>A , CM000663.2:g.55061517C>A	GRCh38
NC_000001.10:g.55527190C>A , CM000663.1:g.55527190C>A	GRCh37
NC_000001.9:g.55299778C>A	NCBI36
NG_009061.1:g.26971C>A , LRG_275:g.26971C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*164C>A	ENSP00000501161.2:n.*164C>A
ENST00000710286.1:c.2181C>A	ENSP00000518176.1:p.Cys727Ter
ENST00000673903.1:c.1449C>A	ENSP00000501257.1:p.Cys483Ter
ENST00000673913.1:c.674C>A	ENSP00000501161.1:n.674C>A
ENST00000302118.5:c.1824C>A MANE Select	ENSP00000303208.5:p.Cys608Ter
ENST00000490692.1:n.2370C>A
NM_174936.3:c.1824C>A , LRG_275t1:c.1824C>A	NP_777596.2:p.Cys608Ter
NR_110451.1:n.1431C>A
XM_011541193.1:c.945C>A	XP_011539495.1:p.Cys315Ter
NM_174936.4:c.1824C>A MANE Select	NP_777596.2:p.Cys608Ter
NR_110451.2:n.1431C>A