Canonical Allele Identifier: CA22795599
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 921264
ClinVar RCV Id: RCV001180538
dbSNP Id: rs72658891
gnomAD v3: 1-55043987-C-T
gnomAD v4: 1-55043987-C-T
MyVariant Identifiers: chr1:g.55509660C>T (hg19) chr1:g.55043987C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55043987C>T , CM000663.2:g.55043987C>T GRCh38
NC_000001.10:g.55509660C>T , CM000663.1:g.55509660C>T GRCh37
NC_000001.9:g.55282248C>T NCBI36
NG_009061.1:g.9441C>T , LRG_275:g.9441C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.352C>T ENSP00000501161.2:p.Leu118Phe
ENST00000710286.1:c.709C>T ENSP00000518176.1:p.Leu237Phe
ENST00000673662.1:n.22C>T
ENST00000673726.1:c.352C>T ENSP00000501004.1:p.Leu118Phe
ENST00000673903.1:c.-24C>T ENSP00000501257.1:n.-24C>T
ENST00000302118.5:c.352C>T MANE Select ENSP00000303208.5:p.Leu118Phe
NM_174936.3:c.352C>T , LRG_275t1:c.352C>T NP_777596.2:p.Leu118Phe
NR_110451.1:n.182+3584C>T
NM_174936.4:c.352C>T MANE Select NP_777596.2:p.Leu118Phe
NR_110451.2:n.182+3584C>T
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