Canonical Allele Identifier: CA2645840839
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55063805-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063805A>C , CM000663.2:g.55063805A>C GRCh38
NC_000001.10:g.55529478A>C , CM000663.1:g.55529478A>C GRCh37
NC_000001.9:g.55302066A>C NCBI36
NG_009061.1:g.29259A>C , LRG_275:g.29259A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*640A>C ENSP00000501161.2:n.*640A>C
ENST00000710286.1:c.*221A>C ENSP00000518176.1:n.*221A>C
ENST00000673903.1:c.*221A>C ENSP00000501257.1:n.*221A>C
ENST00000302118.5:c.*221A>C MANE Select ENSP00000303208.5:n.*221A>C
ENST00000490692.1:n.2846A>C
NM_174936.3:c.*221A>C , LRG_275t1:c.*221A>C NP_777596.2:n.*221A>C
NR_110451.1:n.1907A>C
XM_011541193.1:c.*221A>C XP_011539495.1:n.*221A>C
NM_174936.4:c.*221A>C MANE Select NP_777596.2:n.*221A>C
NR_110451.2:n.1907A>C
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