Canonical Allele Identifier: CA417960434

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 926141
• ClinVar RCV Id: RCV001188533
• dbSNP Id: rs1644743439
• gnomAD v4: 1-55059605-A-G
• MyVariant Identifiers: chr1:g.55525278A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059605A>G , CM000663.2:g.55059605A>G	GRCh38
NC_000001.10:g.55525278A>G , CM000663.1:g.55525278A>G	GRCh37
NC_000001.9:g.55297866A>G	NCBI36
NG_009061.1:g.25059A>G , LRG_275:g.25059A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1623A>G	ENSP00000501161.2:p.Pro541=
ENST00000710286.1:c.1980A>G	ENSP00000518176.1:p.Pro660=
ENST00000673903.1:c.1248A>G	ENSP00000501257.1:p.Pro416=
ENST00000673913.1:c.363A>G	ENSP00000501161.1:p.Pro121=
ENST00000302118.5:c.1623A>G MANE Select	ENSP00000303208.5:p.Pro541=
ENST00000490692.1:n.2227+958A>G
NM_174936.3:c.1623A>G , LRG_275t1:c.1623A>G	NP_777596.2:p.Pro541=
NR_110451.1:n.1230A>G
XM_011541193.1:c.744A>G	XP_011539495.1:p.Pro248=
NM_174936.4:c.1623A>G MANE Select	NP_777596.2:p.Pro541=
NR_110451.2:n.1230A>G