Canonical Allele Identifier: CA14940631
Gene: PICK1 HGNC NCBI
COSMIC:
COSN17077103 (not active)
MyVariant.info:
GRCh38 chr22:g.38056475G>A
GRCh37 chr22:g.38452482G>A
gnomAD v2:
22:38452482 G / A
gnomAD v3:
22:38056475 G / A
gnomAD v4:
chr22-38056475-G-A
Joint Max Group AF 0.38505749 (EAS)
Genomes Max Group AF 0.38505749 (EAS)
Exomes Max Group AF 0.17768 (AFR)
dbSNP:
3026682
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.38056475G>A , CM000684.2:g.38056475G>A GRCh38
NC_000022.10:g.38452482G>A , CM000684.1:g.38452482G>A GRCh37
NC_000022.9:g.36782428G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000445628.5:c.-353G>A ENSP00000416487.1:n.-353G>A
XR_937962.1:n.56G>A
XM_017029091.1:c.-505G>A XP_016884580.1:n.-505G>A
XM_017029094.1:c.-611G>A XP_016884583.1:n.-611G>A
XR_002958726.1:n.165G>A
XR_002958727.1:n.165G>A
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