Canonical Allele Identifier: CA340480298

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527123A>T (hg19) ; chr1:g.55061450A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061450A>T , CM000663.2:g.55061450A>T	GRCh38
NC_000001.10:g.55527123A>T , CM000663.1:g.55527123A>T	GRCh37
NC_000001.9:g.55299711A>T	NCBI36
NG_009061.1:g.26904A>T , LRG_275:g.26904A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*97A>T	ENSP00000501161.2:n.*97A>T
ENST00000710286.1:c.2114A>T	ENSP00000518176.1:p.Asn705Ile
ENST00000673903.1:c.1382A>T	ENSP00000501257.1:p.Asn461Ile
ENST00000673913.1:c.607A>T	ENSP00000501161.1:n.607A>T
ENST00000302118.5:c.1757A>T MANE Select	ENSP00000303208.5:p.Asn586Ile
ENST00000490692.1:n.2303A>T
NM_174936.3:c.1757A>T , LRG_275t1:c.1757A>T	NP_777596.2:p.Asn586Ile
NR_110451.1:n.1364A>T
XM_011541193.1:c.878A>T	XP_011539495.1:p.Asn293Ile
NM_174936.4:c.1757A>T MANE Select	NP_777596.2:p.Asn586Ile
NR_110451.2:n.1364A>T