Canonical Allele Identifier: CA045004
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs773818469
ExAC: 1:55529265 A / G
gnomAD v2: 1-55529265-A-G
gnomAD v3: 1-55063592-A-G
gnomAD v4: 1-55063592-A-G
MyVariant Identifiers: chr1:g.55529265A>G (hg19) chr1:g.55063592A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063592A>G , CM000663.2:g.55063592A>G GRCh38
NC_000001.10:g.55529265A>G , CM000663.1:g.55529265A>G GRCh37
NC_000001.9:g.55301853A>G NCBI36
NG_009061.1:g.29046A>G , LRG_275:g.29046A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*427A>G ENSP00000501161.2:n.*427A>G
ENST00000710286.1:c.*8A>G ENSP00000518176.1:n.*8A>G
ENST00000673903.1:c.*8A>G ENSP00000501257.1:n.*8A>G
ENST00000302118.5:c.*8A>G MANE Select ENSP00000303208.5:n.*8A>G
ENST00000490692.1:n.2633A>G
NM_174936.3:c.*8A>G , LRG_275t1:c.*8A>G NP_777596.2:n.*8A>G
NR_110451.1:n.1694A>G
XM_011541193.1:c.*8A>G XP_011539495.1:n.*8A>G
NM_174936.4:c.*8A>G MANE Select NP_777596.2:n.*8A>G
NR_110451.2:n.1694A>G
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