Canonical Allele Identifier: CA035223
Gene: PCSK9 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.55057454G>A
GRCh37 chr1:g.55523127G>A
Revel Score:
ENST00000302118 (MANE Select) 0.386
ENST00000543384 0.386
gnomAD v2:
1:55523127 G / A
gnomAD v3:
1:55057454 G / A
gnomAD v4:
chr1-55057454-G-A
Joint Max Group AF 0.00015374 (SAS)
Genomes Max Group AF 0.00003249 (AFR)
Exomes Max Group AF 0.00015299 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55057454G>A , CM000663.2:g.55057454G>A GRCh38
NC_000001.10:g.55523127G>A , CM000663.1:g.55523127G>A GRCh37
NC_000001.9:g.55295715G>A NCBI36
NG_009061.1:g.22908G>A , LRG_275:g.22908G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1120G>A ENSP00000501161.2:p.Asp374Asn
ENST00000710286.1:c.1477G>A ENSP00000518176.1:p.Asp493Asn
ENST00000673903.1:c.745G>A ENSP00000501257.1:p.Asp249Asn
ENST00000302118.5:c.1120G>A MANE Select ENSP00000303208.5:p.Asp374Asn
ENST00000490692.1:n.1844G>A
NM_174936.3:c.1120G>A , LRG_275t1:c.1120G>A NP_777596.2:p.Asp374Asn
NR_110451.1:n.779G>A
XM_011541193.1:c.241G>A XP_011539495.1:p.Asp81Asn
NM_174936.4:c.1120G>A MANE Select NP_777596.2:p.Asp374Asn
NR_110451.2:n.779G>A
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