Canonical Allele Identifier: CA2299427

Gene: GLB1

Linked Data

• ClinVar Variation Id: 528328
• ClinVar RCV Id: RCV000666461 ; RCV000633471 ; RCV001568844 ; RCV003338697
• dbSNP Id: rs564428355
• ExAC: 3:33059962 C / T
• gnomAD v2: 3-33059962-C-T
• gnomAD v3: 3-33018470-C-T
• gnomAD v4: 3-33018470-C-T
• MyVariant Identifiers: chr3:g.33059962C>T (hg19) ; chr3:g.33018470C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33018470C>T , CM000665.2:g.33018470C>T	GRCh38
NC_000003.11:g.33059962C>T , CM000665.1:g.33059962C>T	GRCh37
NC_000003.10:g.33034966C>T	NCBI36
NG_009005.1:g.83733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1325G>A MANE Select	ENSP00000306920.4:p.Arg442Gln
ENST00000307363.9:c.1325G>A	ENSP00000306920.4:p.Arg442Gln
ENST00000307377.12:c.932G>A	ENSP00000305920.8:p.Arg311Gln
ENST00000399402.7:c.1235G>A	ENSP00000382333.2:p.Arg412Gln
ENST00000461475.5:n.424G>A
ENST00000467571.5:n.362G>A
ENST00000497796.5:n.577G>A
NM_000404.2:c.1325G>A	NP_000395.2:p.Arg442Gln
NM_000404.3:c.1325G>A	NP_000395.2:p.Arg442Gln
NM_001079811.1:c.1235G>A	NP_001073279.1:p.Arg412Gln
NM_001079811.2:c.1235G>A	NP_001073279.1:p.Arg412Gln
NM_001135602.1:c.932G>A	NP_001129074.1:p.Arg311Gln
NM_001135602.2:c.932G>A	NP_001129074.1:p.Arg311Gln
NM_001317040.1:c.1469G>A	NP_001303969.1:p.Arg490Gln
NM_000404.4:c.1325G>A MANE Select	NP_000395.3:p.Arg442Gln
NM_001079811.3:c.1235G>A	NP_001073279.2:p.Arg412Gln
NM_001135602.3:c.932G>A	NP_001129074.2:p.Arg311Gln
NM_001317040.2:c.1469G>A	NP_001303969.2:p.Arg490Gln
NM_001393580.1:c.1325G>A	NP_001380509.1:p.Arg442Gln