Canonical Allele Identifier: CA201251

Gene: GLB1

Linked Data

• ClinVar Variation Id: 92901
• ClinVar RCV Id: RCV000174999 ; RCV000794211 ; RCV001804833 ; RCV001810420 ; RCV004526614 ; RCV004542752
• dbSNP Id: rs398123351
• ExAC: 3:33038802 C / T
• gnomAD v2: 3-33038802-C-T
• gnomAD v3: 3-32997310-C-T
• gnomAD v4: 3-32997310-C-T
• MyVariant Identifiers: chr3:g.33038802C>T (hg19) ; chr3:g.32997310C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997310C>T , CM000665.2:g.32997310C>T	GRCh38
NC_000003.11:g.33038802C>T , CM000665.1:g.33038802C>T	GRCh37
NC_000003.10:g.33013806C>T	NCBI36
NG_009005.1:g.104893G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1769G>A MANE Select	ENSP00000306920.4:p.Arg590His
ENST00000307363.9:c.1769G>A	ENSP00000306920.4:p.Arg590His
ENST00000307377.12:c.1376G>A	ENSP00000305920.8:p.Arg459His
ENST00000399402.7:c.1679G>A	ENSP00000382333.2:p.Arg560His
NM_000404.2:c.1769G>A	NP_000395.2:p.Arg590His
NM_000404.3:c.1769G>A	NP_000395.2:p.Arg590His
NM_001079811.1:c.1679G>A	NP_001073279.1:p.Arg560His
NM_001079811.2:c.1679G>A	NP_001073279.1:p.Arg560His
NM_001135602.1:c.1376G>A	NP_001129074.1:p.Arg459His
NM_001135602.2:c.1376G>A	NP_001129074.1:p.Arg459His
NM_001317040.1:c.1913G>A	NP_001303969.1:p.Arg638His
NM_000404.4:c.1769G>A MANE Select	NP_000395.3:p.Arg590His
NM_001079811.3:c.1679G>A	NP_001073279.2:p.Arg560His
NM_001135602.3:c.1376G>A	NP_001129074.2:p.Arg459His
NM_001317040.2:c.1913G>A	NP_001303969.2:p.Arg638His
NM_001393580.1:c.1734+16746G>A	NP_001380509.1:n.1734+16746G>A