Canonical Allele Identifier: CA340482660
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 922622
ClinVar RCV Id: RCV001182804
dbSNP Id: rs1644584325
gnomAD v4: 1-55039877-C-T
MyVariant Identifiers: chr1:g.55505550C>T (hg19) chr1:g.55039877C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039877C>T , CM000663.2:g.55039877C>T GRCh38
NC_000001.10:g.55505550C>T , CM000663.1:g.55505550C>T GRCh37
NC_000001.9:g.55278138C>T NCBI36
NG_009061.1:g.5331C>T , LRG_275:g.5331C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.40C>T ENSP00000501161.2:p.Pro14Ser
ENST00000710286.1:c.397C>T ENSP00000518176.1:p.Pro133Ser
ENST00000673726.1:c.40C>T ENSP00000501004.1:p.Pro14Ser
ENST00000302118.5:c.40C>T MANE Select ENSP00000303208.5:p.Pro14Ser
NM_174936.3:c.40C>T , LRG_275t1:c.40C>T NP_777596.2:p.Pro14Ser
NM_174936.4:c.40C>T MANE Select NP_777596.2:p.Pro14Ser
Search 100 bp 5'
Search 100 bp 3'