Canonical Allele Identifier: CA737022745
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs886046428
gnomAD v3: 1-55039617-T-A
gnomAD v4: 1-55039617-T-A
MyVariant Identifiers: chr1:g.55505290T>A (hg19) chr1:g.55039617T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039617T>A , CM000663.2:g.55039617T>A GRCh38
NC_000001.10:g.55505290T>A , CM000663.1:g.55505290T>A GRCh37
NC_000001.9:g.55277878T>A NCBI36
NG_009061.1:g.5071T>A , LRG_275:g.5071T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.-221T>A ENSP00000501161.2:n.-221T>A
ENST00000710286.1:c.137T>A ENSP00000518176.1:p.Val46Glu
ENST00000673726.1:c.-221T>A ENSP00000501004.1:n.-221T>A
ENST00000302118.5:c.-221T>A MANE Select ENSP00000303208.5:n.-221T>A
NM_174936.3:c.-221T>A , LRG_275t1:c.-221T>A NP_777596.2:n.-221T>A
NM_174936.4:c.-221T>A MANE Select NP_777596.2:n.-221T>A
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