Canonical Allele Identifier: CA114644
Gene: GLB1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.33016743C>T
GRCh37 chr3:g.33058235C>T
Revel Score:
ENST00000399402 0.848
ENST00000307363 (MANE Select) 0.848
ENST00000445488 0.848
ENST00000307377 0.848
gnomAD v2:
3:33058235 C / T
gnomAD v3:
3:33016743 C / T
gnomAD v4:
chr3-33016743-C-T
Joint Max Group AF 0.00001376 (NFE)
Genomes Max Group AF 0.00002262 (AMR)
Exomes Max Group AF 0.0000146 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33016743C>T , CM000665.2:g.33016743C>T GRCh38
NC_000003.11:g.33058235C>T , CM000665.1:g.33058235C>T GRCh37
NC_000003.10:g.33033239C>T NCBI36
NG_009005.1:g.85460G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.1445G>A MANE Select ENSP00000306920.4:p.Arg482His
ENST00000307363.9:c.1445G>A ENSP00000306920.4:p.Arg482His
ENST00000307377.12:c.1052G>A ENSP00000305920.8:p.Arg351His
ENST00000399402.7:c.1355G>A ENSP00000382333.2:p.Arg452His
ENST00000461475.5:n.544G>A
ENST00000467571.5:n.482G>A
ENST00000497796.5:n.697G>A
NM_000404.2:c.1445G>A NP_000395.2:p.Arg482His
NM_000404.3:c.1445G>A NP_000395.2:p.Arg482His
NM_001079811.1:c.1355G>A NP_001073279.1:p.Arg452His
NM_001079811.2:c.1355G>A NP_001073279.1:p.Arg452His
NM_001135602.1:c.1052G>A NP_001129074.1:p.Arg351His
NM_001135602.2:c.1052G>A NP_001129074.1:p.Arg351His
NM_001317040.1:c.1589G>A NP_001303969.1:p.Arg530His
NM_000404.4:c.1445G>A MANE Select NP_000395.3:p.Arg482His
NM_001079811.3:c.1355G>A NP_001073279.2:p.Arg452His
NM_001135602.3:c.1052G>A NP_001129074.2:p.Arg351His
NM_001317040.2:c.1589G>A NP_001303969.2:p.Arg530His
NM_001393580.1:c.1445G>A NP_001380509.1:p.Arg482His
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