Canonical Allele Identifier: CA417960617

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 919868
• ClinVar RCV Id: RCV001178286 ; RCV002411677
• dbSNP Id: rs948729146
• gnomAD v3: 1-55063419-C-T
• gnomAD v4: 1-55063419-C-T
• MyVariant Identifiers: chr1:g.55529092C>T (hg19) ; chr1:g.55063419C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063419C>T , CM000663.2:g.55063419C>T	GRCh38
NC_000001.10:g.55529092C>T , CM000663.1:g.55529092C>T	GRCh37
NC_000001.9:g.55301680C>T	NCBI36
NG_009061.1:g.28873C>T , LRG_275:g.28873C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.*254C>T	ENSP00000501161.2:n.*254C>T
ENST00000710286.1:c.2271C>T	ENSP00000518176.1:p.Leu757=
ENST00000673903.1:c.1539C>T	ENSP00000501257.1:p.Leu513=
ENST00000673913.1:c.764C>T	ENSP00000501161.1:n.764C>T
ENST00000302118.5:c.1914C>T MANE Select	ENSP00000303208.5:p.Leu638=
ENST00000490692.1:n.2460C>T
NM_174936.3:c.1914C>T , LRG_275t1:c.1914C>T	NP_777596.2:p.Leu638=
NR_110451.1:n.1521C>T
XM_011541193.1:c.1035C>T	XP_011539495.1:p.Leu345=
NM_174936.4:c.1914C>T MANE Select	NP_777596.2:p.Leu638=
NR_110451.2:n.1521C>T