Canonical Allele Identifier: CA2573051598
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1332452
ClinVar RCV Id: RCV001805498 RCV003772245
dbSNP Id: rs2100266306
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55043837G>A , CM000663.2:g.55043837G>A GRCh38
NC_000001.10:g.55509510G>A , CM000663.1:g.55509510G>A GRCh37
NC_000001.9:g.55282098G>A NCBI36
NG_009061.1:g.9291G>A , LRG_275:g.9291G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.208-6G>A ENSP00000501161.2:n.208-6G>A
ENST00000710286.1:c.565-6G>A ENSP00000518176.1:n.565-6G>A
ENST00000673726.1:c.208-6G>A ENSP00000501004.1:n.208-6G>A
ENST00000673903.1:c.-168-6G>A ENSP00000501257.1:n.-168-6G>A
ENST00000302118.5:c.208-6G>A MANE Select ENSP00000303208.5:n.208-6G>A
NM_174936.3:c.208-6G>A , LRG_275t1:c.208-6G>A NP_777596.2:n.208-6G>A
NR_110451.1:n.182+3434G>A
NM_174936.4:c.208-6G>A MANE Select NP_777596.2:n.208-6G>A
NR_110451.2:n.182+3434G>A
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