Canonical Allele Identifier: CA417960616

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529089C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063416C>T , CM000663.2:g.55063416C>T	GRCh38
NC_000001.10:g.55529089C>T , CM000663.1:g.55529089C>T	GRCh37
NC_000001.9:g.55301677C>T	NCBI36
NG_009061.1:g.28870C>T , LRG_275:g.28870C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.*251C>T	ENSP00000501161.2:n.*251C>T
ENST00000710286.1:c.2268C>T	ENSP00000518176.1:p.Ala756=
ENST00000673903.1:c.1536C>T	ENSP00000501257.1:p.Ala512=
ENST00000673913.1:c.761C>T	ENSP00000501161.1:n.761C>T
ENST00000302118.5:c.1911C>T MANE Select	ENSP00000303208.5:p.Ala637=
ENST00000490692.1:n.2457C>T
NM_174936.3:c.1911C>T , LRG_275t1:c.1911C>T	NP_777596.2:p.Ala637=
NR_110451.1:n.1518C>T
XM_011541193.1:c.1032C>T	XP_011539495.1:p.Ala344=
NM_174936.4:c.1911C>T MANE Select	NP_777596.2:p.Ala637=
NR_110451.2:n.1518C>T