Canonical Allele Identifier: CA417960548

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 920650
• ClinVar RCV Id: RCV001179506 ; RCV002411681 ; RCV004006570
• dbSNP Id: rs1349990848
• gnomAD v2: 1-55527163-C-T
• gnomAD v4: 1-55061490-C-T
• MyVariant Identifiers: chr1:g.55527163C>T (hg19) ; chr1:g.55061490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061490C>T , CM000663.2:g.55061490C>T	GRCh38
NC_000001.10:g.55527163C>T , CM000663.1:g.55527163C>T	GRCh37
NC_000001.9:g.55299751C>T	NCBI36
NG_009061.1:g.26944C>T , LRG_275:g.26944C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*137C>T	ENSP00000501161.2:n.*137C>T
ENST00000710286.1:c.2154C>T	ENSP00000518176.1:p.Ser718=
ENST00000673903.1:c.1422C>T	ENSP00000501257.1:p.Ser474=
ENST00000673913.1:c.647C>T	ENSP00000501161.1:n.647C>T
ENST00000302118.5:c.1797C>T MANE Select	ENSP00000303208.5:p.Ser599=
ENST00000490692.1:n.2343C>T
NM_174936.3:c.1797C>T , LRG_275t1:c.1797C>T	NP_777596.2:p.Ser599=
NR_110451.1:n.1404C>T
XM_011541193.1:c.918C>T	XP_011539495.1:p.Ser306=
NM_174936.4:c.1797C>T MANE Select	NP_777596.2:p.Ser599=
NR_110451.2:n.1404C>T