Canonical Allele Identifier: CA417960568

Gene: PCSK9

Linked Data

• dbSNP Id: rs1450967500
• gnomAD v2: 1-55527199-G-A
• MyVariant Identifiers: chr1:g.55527199G>A (hg19) ; chr1:g.55061526G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061526G>A , CM000663.2:g.55061526G>A	GRCh38
NC_000001.10:g.55527199G>A , CM000663.1:g.55527199G>A	GRCh37
NC_000001.9:g.55299787G>A	NCBI36
NG_009061.1:g.26980G>A , LRG_275:g.26980G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*173G>A	ENSP00000501161.2:n.*173G>A
ENST00000710286.1:c.2190G>A	ENSP00000518176.1:p.Lys730=
ENST00000673903.1:c.1458G>A	ENSP00000501257.1:p.Lys486=
ENST00000673913.1:c.683G>A	ENSP00000501161.1:n.683G>A
ENST00000302118.5:c.1833G>A MANE Select	ENSP00000303208.5:p.Lys611=
ENST00000490692.1:n.2379G>A
NM_174936.3:c.1833G>A , LRG_275t1:c.1833G>A	NP_777596.2:p.Lys611=
NR_110451.1:n.1440G>A
XM_011541193.1:c.954G>A	XP_011539495.1:p.Lys318=
NM_174936.4:c.1833G>A MANE Select	NP_777596.2:p.Lys611=
NR_110451.2:n.1440G>A