Canonical Allele Identifier: CA22768808
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 873732
ClinVar RCV Id: RCV001096120 RCV001097867
dbSNP Id: rs368297335
gnomAD v2: 1-55529522-C-T
gnomAD v3: 1-55063849-C-T
gnomAD v4: 1-55063849-C-T
MyVariant Identifiers: chr1:g.55529522C>T (hg19) chr1:g.55063849C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063849C>T , CM000663.2:g.55063849C>T GRCh38
NC_000001.10:g.55529522C>T , CM000663.1:g.55529522C>T GRCh37
NC_000001.9:g.55302110C>T NCBI36
NG_009061.1:g.29303C>T , LRG_275:g.29303C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*684C>T ENSP00000501161.2:n.*684C>T
ENST00000710286.1:c.*265C>T ENSP00000518176.1:n.*265C>T
ENST00000673903.1:c.*265C>T ENSP00000501257.1:n.*265C>T
ENST00000302118.5:c.*265C>T MANE Select ENSP00000303208.5:n.*265C>T
ENST00000490692.1:n.2890C>T
NM_174936.3:c.*265C>T , LRG_275t1:c.*265C>T NP_777596.2:n.*265C>T
NR_110451.1:n.1951C>T
XM_011541193.1:c.*265C>T XP_011539495.1:n.*265C>T
NM_174936.4:c.*265C>T MANE Select NP_777596.2:n.*265C>T
NR_110451.2:n.1951C>T
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