Canonical Allele Identifier: CA039635

Gene: PCSK9

Linked Data

• dbSNP Id: rs778555112
• ExAC: 1:55529091 T / TC
• gnomAD v2: 1-55529091-T-TC
• gnomAD v3: 1-55063418-T-TC
• gnomAD v4: 1-55063418-T-TC
• MyVariant Identifiers: chr1:g.55529091_55529092insC (hg19) ; chr1:g.55063418_55063419insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063421dup , CM000663.2:g.55063421dup	GRCh38
NC_000001.10:g.55529094dup , CM000663.1:g.55529094dup	GRCh37
NC_000001.9:g.55301682dup	NCBI36
NG_009061.1:g.28875dup , LRG_275:g.28875dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.*256dup	ENSP00000501161.2:n.*256dup
ENST00000710286.1:c.2273dup	ENSP00000518176.1:p.Gly759TrpfsTer?
ENST00000673903.1:c.1541dup	ENSP00000501257.1:p.Gly515TrpfsTer?
ENST00000673913.1:c.766dup	ENSP00000501161.1:n.766dup
ENST00000302118.5:c.1916dup MANE Select	ENSP00000303208.5:p.Gly640TrpfsTer?
ENST00000490692.1:n.2462dup
NM_174936.3:c.1916dup , LRG_275t1:c.1916dup	NP_777596.2:p.Gly640TrpfsTer?
NR_110451.1:n.1523dup
XM_011541193.1:c.1037dup	XP_011539495.1:p.Gly347TrpfsTer?
NM_174936.4:c.1916dup MANE Select	NP_777596.2:p.Gly640TrpfsTer?
NR_110451.2:n.1523dup