Canonical Allele Identifier: CA2598278224
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs2100346196
gnomAD v3: 1-55063867-T-A
gnomAD v4: 1-55063867-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063867T>A , CM000663.2:g.55063867T>A GRCh38
NC_000001.10:g.55529540T>A , CM000663.1:g.55529540T>A GRCh37
NC_000001.9:g.55302128T>A NCBI36
NG_009061.1:g.29321T>A , LRG_275:g.29321T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*702T>A ENSP00000501161.2:n.*702T>A
ENST00000710286.1:c.*283T>A ENSP00000518176.1:n.*283T>A
ENST00000673903.1:c.*283T>A ENSP00000501257.1:n.*283T>A
ENST00000302118.5:c.*283T>A MANE Select ENSP00000303208.5:n.*283T>A
ENST00000490692.1:n.2908T>A
NM_174936.3:c.*283T>A , LRG_275t1:c.*283T>A NP_777596.2:n.*283T>A
NR_110451.1:n.1969T>A
XM_011541193.1:c.*283T>A XP_011539495.1:n.*283T>A
NM_174936.4:c.*283T>A MANE Select NP_777596.2:n.*283T>A
NR_110451.2:n.1969T>A
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