Canonical Allele Identifier: CA040897
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 468296
ClinVar RCV Id: RCV001086878 RCV002448724
dbSNP Id: rs146563151
ExAC: 1:55509533 T / C
gnomAD v2: 1-55509533-T-C
gnomAD v3: 1-55043860-T-C
gnomAD v4: 1-55043860-T-C
MyVariant Identifiers: chr1:g.55509533T>C (hg19) chr1:g.55043860T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55043860T>C , CM000663.2:g.55043860T>C GRCh38
NC_000001.10:g.55509533T>C , CM000663.1:g.55509533T>C GRCh37
NC_000001.9:g.55282121T>C NCBI36
NG_009061.1:g.9314T>C , LRG_275:g.9314T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.225T>C ENSP00000501161.2:p.Pro75=
ENST00000710286.1:c.582T>C ENSP00000518176.1:p.Pro194=
ENST00000673726.1:c.225T>C ENSP00000501004.1:p.Pro75=
ENST00000673903.1:c.-151T>C ENSP00000501257.1:n.-151T>C
ENST00000302118.5:c.225T>C MANE Select ENSP00000303208.5:p.Pro75=
NM_174936.3:c.225T>C , LRG_275t1:c.225T>C NP_777596.2:p.Pro75=
NR_110451.1:n.182+3457T>C
NM_174936.4:c.225T>C MANE Select NP_777596.2:p.Pro75=
NR_110451.2:n.182+3457T>C
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