Canonical Allele Identifier: CA417957585

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55509699C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55044026C>T , CM000663.2:g.55044026C>T	GRCh38
NC_000001.10:g.55509699C>T , CM000663.1:g.55509699C>T	GRCh37
NC_000001.9:g.55282287C>T	NCBI36
NG_009061.1:g.9480C>T , LRG_275:g.9480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.391C>T	ENSP00000501161.2:p.Leu131=
ENST00000710286.1:c.748C>T	ENSP00000518176.1:p.Leu250=
ENST00000673662.1:n.61C>T
ENST00000673726.1:c.391C>T	ENSP00000501004.1:p.Leu131=
ENST00000673903.1:c.16C>T	ENSP00000501257.1:p.Leu6=
ENST00000302118.5:c.391C>T MANE Select	ENSP00000303208.5:p.Leu131=
NM_174936.3:c.391C>T , LRG_275t1:c.391C>T	NP_777596.2:p.Leu131=
NR_110451.1:n.182+3623C>T
NM_174936.4:c.391C>T MANE Select	NP_777596.2:p.Leu131=
NR_110451.2:n.182+3623C>T