Canonical Allele Identifier: CA10672626
Gene: PCSK9 HGNC NCBI
COSMIC:
COSN6460339 (not active)
MyVariant.info:
GRCh38 chr1:g.55061650G>A
GRCh37 chr1:g.55527323G>A
gnomAD v2:
1:55527323 G / A
gnomAD v3:
1:55061650 G / A
gnomAD v4:
chr1-55061650-G-A
Joint Max Group AF 0.85130277 (EAS)
Genomes Max Group AF 0.83565381 (EAS)
Exomes Max Group AF 0.85107747 (EAS)
dbSNP:
630431
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061650G>A , CM000663.2:g.55061650G>A GRCh38
NC_000001.10:g.55527323G>A , CM000663.1:g.55527323G>A GRCh37
NC_000001.9:g.55299911G>A NCBI36
NG_009061.1:g.27104G>A , LRG_275:g.27104G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*203+94G>A ENSP00000501161.2:n.*203+94G>A
ENST00000710286.1:c.2220+94G>A ENSP00000518176.1:n.2220+94G>A
ENST00000673903.1:c.1488+94G>A ENSP00000501257.1:n.1488+94G>A
ENST00000673913.1:c.713+94G>A ENSP00000501161.1:n.713+94G>A
ENST00000302118.5:c.1863+94G>A MANE Select ENSP00000303208.5:n.1863+94G>A
ENST00000490692.1:n.2409+94G>A
NM_174936.3:c.1863+94G>A , LRG_275t1:c.1863+94G>A NP_777596.2:n.1863+94G>A
NR_110451.1:n.1470+94G>A
XM_011541193.1:c.984+94G>A XP_011539495.1:n.984+94G>A
NM_174936.4:c.1863+94G>A MANE Select NP_777596.2:n.1863+94G>A
NR_110451.2:n.1470+94G>A
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