Canonical Allele Identifier: CA114644

Gene: GLB1

Linked Data

• ClinVar Variation Id: 932
• ClinVar RCV Id: RCV000000981 ; RCV000119099 ; RCV000174679 ; RCV000586055 ; RCV001034863 ; RCV002476905
• dbSNP Id: rs72555391
• ExAC: 3:33058235 C / T
• gnomAD v2: 3-33058235-C-T
• gnomAD v3: 3-33016743-C-T
• gnomAD v4: 3-33016743-C-T
• MyVariant Identifiers: chr3:g.33058235C>T (hg19) ; chr3:g.33016743C>T (hg38)
• PubMed: PMID:1487238 ; PMID:1928092 ; PMID:8500799 ; PMID:23891399

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