Canonical Allele Identifier: CA340480013

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55525283A>T (hg19) ; chr1:g.55059610A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059610A>T , CM000663.2:g.55059610A>T	GRCh38
NC_000001.10:g.55525283A>T , CM000663.1:g.55525283A>T	GRCh37
NC_000001.9:g.55297871A>T	NCBI36
NG_009061.1:g.25064A>T , LRG_275:g.25064A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1628A>T	ENSP00000501161.2:p.Glu543Val
ENST00000710286.1:c.1985A>T	ENSP00000518176.1:p.Glu662Val
ENST00000673903.1:c.1253A>T	ENSP00000501257.1:p.Glu418Val
ENST00000673913.1:c.368A>T	ENSP00000501161.1:p.Glu123Val
ENST00000302118.5:c.1628A>T MANE Select	ENSP00000303208.5:p.Glu543Val
ENST00000490692.1:n.2227+963A>T
NM_174936.3:c.1628A>T , LRG_275t1:c.1628A>T	NP_777596.2:p.Glu543Val
NR_110451.1:n.1235A>T
XM_011541193.1:c.749A>T	XP_011539495.1:p.Glu250Val
NM_174936.4:c.1628A>T MANE Select	NP_777596.2:p.Glu543Val
NR_110451.2:n.1235A>T