Canonical Allele Identifier: CA737022971
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs1398943846
gnomAD v3: 1-55039825-T-C
gnomAD v4: 1-55039825-T-C
MyVariant Identifiers: chr1:g.55505498T>C (hg19) chr1:g.55039825T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039825T>C , CM000663.2:g.55039825T>C GRCh38
NC_000001.10:g.55505498T>C , CM000663.1:g.55505498T>C GRCh37
NC_000001.9:g.55278086T>C NCBI36
NG_009061.1:g.5279T>C , LRG_275:g.5279T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.-13T>C ENSP00000501161.2:n.-13T>C
ENST00000710286.1:c.345T>C ENSP00000518176.1:p.Ser115=
ENST00000673726.1:c.-13T>C ENSP00000501004.1:n.-13T>C
ENST00000302118.5:c.-13T>C MANE Select ENSP00000303208.5:n.-13T>C
NM_174936.3:c.-13T>C , LRG_275t1:c.-13T>C NP_777596.2:n.-13T>C
NM_174936.4:c.-13T>C MANE Select NP_777596.2:n.-13T>C
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