Canonical Allele Identifier: CA16610138

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 405336
• ClinVar RCV Id: RCV000466490
• dbSNP Id: rs1060500658
• MyVariant Identifiers: chr1:g.55529098G>T (hg19) ; chr1:g.55063425G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063425G>T , CM000663.2:g.55063425G>T	GRCh38
NC_000001.10:g.55529098G>T , CM000663.1:g.55529098G>T	GRCh37
NC_000001.9:g.55301686G>T	NCBI36
NG_009061.1:g.28879G>T , LRG_275:g.28879G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*260G>T	ENSP00000501161.2:n.*260G>T
ENST00000710286.1:c.2277G>T	ENSP00000518176.1:p.Gly759=
ENST00000673903.1:c.1545G>T	ENSP00000501257.1:p.Gly515=
ENST00000673913.1:c.770G>T	ENSP00000501161.1:n.770G>T
ENST00000302118.5:c.1920G>T MANE Select	ENSP00000303208.5:p.Gly640=
ENST00000490692.1:n.2466G>T
NM_174936.3:c.1920G>T , LRG_275t1:c.1920G>T	NP_777596.2:p.Gly640=
NR_110451.1:n.1527G>T
XM_011541193.1:c.1041G>T	XP_011539495.1:p.Gly347=
NM_174936.4:c.1920G>T MANE Select	NP_777596.2:p.Gly640=
NR_110451.2:n.1527G>T