Canonical Allele Identifier: CA2645840490
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55063627-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063627G>C , CM000663.2:g.55063627G>C GRCh38
NC_000001.10:g.55529300G>C , CM000663.1:g.55529300G>C GRCh37
NC_000001.9:g.55301888G>C NCBI36
NG_009061.1:g.29081G>C , LRG_275:g.29081G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*462G>C ENSP00000501161.2:n.*462G>C
ENST00000710286.1:c.*43G>C ENSP00000518176.1:n.*43G>C
ENST00000673903.1:c.*43G>C ENSP00000501257.1:n.*43G>C
ENST00000302118.5:c.*43G>C MANE Select ENSP00000303208.5:n.*43G>C
ENST00000490692.1:n.2668G>C
NM_174936.3:c.*43G>C , LRG_275t1:c.*43G>C NP_777596.2:n.*43G>C
NR_110451.1:n.1729G>C
XM_011541193.1:c.*43G>C XP_011539495.1:n.*43G>C
NM_174936.4:c.*43G>C MANE Select NP_777596.2:n.*43G>C
NR_110451.2:n.1729G>C
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