Canonical Allele Identifier: CA22768463
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 536203
ClinVar RCV Id: RCV000644535 RCV001190905
dbSNP Id: rs892210400
gnomAD v2: 1-55529192-G-A
gnomAD v3: 1-55063519-G-A
gnomAD v4: 1-55063519-G-A
MyVariant Identifiers: chr1:g.55529192G>A (hg19) chr1:g.55063519G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063519G>A , CM000663.2:g.55063519G>A GRCh38
NC_000001.10:g.55529192G>A , CM000663.1:g.55529192G>A GRCh37
NC_000001.9:g.55301780G>A NCBI36
NG_009061.1:g.28973G>A , LRG_275:g.28973G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*354G>A ENSP00000501161.2:n.*354G>A
ENST00000710286.1:c.2371G>A ENSP00000518176.1:p.Val791Met
ENST00000673903.1:c.1639G>A ENSP00000501257.1:p.Val547Met
ENST00000673913.1:c.864G>A ENSP00000501161.1:n.864G>A
ENST00000302118.5:c.2014G>A MANE Select ENSP00000303208.5:p.Val672Met
ENST00000490692.1:n.2560G>A
NM_174936.3:c.2014G>A , LRG_275t1:c.2014G>A NP_777596.2:p.Val672Met
NR_110451.1:n.1621G>A
XM_011541193.1:c.1135G>A XP_011539495.1:p.Val379Met
NM_174936.4:c.2014G>A MANE Select NP_777596.2:p.Val672Met
NR_110451.2:n.1621G>A
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