Canonical Allele Identifier: CA340479730

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059520-A-T
• MyVariant Identifiers: chr1:g.55525193A>T (hg19) ; chr1:g.55059520A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059520A>T , CM000663.2:g.55059520A>T	GRCh38
NC_000001.10:g.55525193A>T , CM000663.1:g.55525193A>T	GRCh37
NC_000001.9:g.55297781A>T	NCBI36
NG_009061.1:g.24974A>T , LRG_275:g.24974A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1538A>T	ENSP00000501161.2:p.Asn513Ile
ENST00000710286.1:c.1895A>T	ENSP00000518176.1:p.Asn632Ile
ENST00000673903.1:c.1163A>T	ENSP00000501257.1:p.Asn388Ile
ENST00000673913.1:c.278A>T	ENSP00000501161.1:p.Asn93Ile
ENST00000302118.5:c.1538A>T MANE Select	ENSP00000303208.5:p.Asn513Ile
ENST00000490692.1:n.2227+873A>T
NM_174936.3:c.1538A>T , LRG_275t1:c.1538A>T	NP_777596.2:p.Asn513Ile
NR_110451.1:n.1145A>T
XM_011541193.1:c.659A>T	XP_011539495.1:p.Asn220Ile
NM_174936.4:c.1538A>T MANE Select	NP_777596.2:p.Asn513Ile
NR_110451.2:n.1145A>T