Canonical Allele Identifier: CA523275401
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs1323032357
gnomAD v2: 1-55505490-G-A
gnomAD v4: 1-55039817-G-A
MyVariant Identifiers: chr1:g.55505490G>A (hg19) chr1:g.55039817G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039817G>A , CM000663.2:g.55039817G>A GRCh38
NC_000001.10:g.55505490G>A , CM000663.1:g.55505490G>A GRCh37
NC_000001.9:g.55278078G>A NCBI36
NG_009061.1:g.5271G>A , LRG_275:g.5271G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.-21G>A ENSP00000501161.2:n.-21G>A
ENST00000710286.1:c.337G>A ENSP00000518176.1:p.Ala113Thr
ENST00000673726.1:c.-21G>A ENSP00000501004.1:n.-21G>A
ENST00000302118.5:c.-21G>A MANE Select ENSP00000303208.5:n.-21G>A
NM_174936.3:c.-21G>A , LRG_275t1:c.-21G>A NP_777596.2:n.-21G>A
NM_174936.4:c.-21G>A MANE Select NP_777596.2:n.-21G>A
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