Canonical Allele Identifier: CA1167986581

Gene: PCSK9

Linked Data

• dbSNP Id: rs1644779690

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063621_55063625dup , CM000663.2:g.55063621_55063625dup	GRCh38
NC_000001.10:g.55529294_55529298dup , CM000663.1:g.55529294_55529298dup	GRCh37
NC_000001.9:g.55301882_55301886dup	NCBI36
NG_009061.1:g.29075_29079dup , LRG_275:g.29075_29079dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*456_*460dup	ENSP00000501161.2:n.*456_*460dup
ENST00000710286.1:c.*37_*41dup	ENSP00000518176.1:n.*37_*41dup
ENST00000673903.1:c.*37_*41dup	ENSP00000501257.1:n.*37_*41dup
ENST00000302118.5:c.*37_*41dup MANE Select	ENSP00000303208.5:n.*37_*41dup
ENST00000490692.1:n.2662_2666dup
NM_174936.3:c.*37_*41dup , LRG_275t1:c.*37_*41dup	NP_777596.2:n.*37_*41dup
NR_110451.1:n.1723_1727dup
XM_011541193.1:c.*37_*41dup	XP_011539495.1:n.*37_*41dup
NM_174936.4:c.*37_*41dup MANE Select	NP_777596.2:n.*37_*41dup
NR_110451.2:n.1723_1727dup