Canonical Allele Identifier: CA2645840624
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55063706-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063706C>A , CM000663.2:g.55063706C>A GRCh38
NC_000001.10:g.55529379C>A , CM000663.1:g.55529379C>A GRCh37
NC_000001.9:g.55301967C>A NCBI36
NG_009061.1:g.29160C>A , LRG_275:g.29160C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*541C>A ENSP00000501161.2:n.*541C>A
ENST00000710286.1:c.*122C>A ENSP00000518176.1:n.*122C>A
ENST00000673903.1:c.*122C>A ENSP00000501257.1:n.*122C>A
ENST00000302118.5:c.*122C>A MANE Select ENSP00000303208.5:n.*122C>A
ENST00000490692.1:n.2747C>A
NM_174936.3:c.*122C>A , LRG_275t1:c.*122C>A NP_777596.2:n.*122C>A
NR_110451.1:n.1808C>A
XM_011541193.1:c.*122C>A XP_011539495.1:n.*122C>A
NM_174936.4:c.*122C>A MANE Select NP_777596.2:n.*122C>A
NR_110451.2:n.1808C>A
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