Canonical Allele Identifier: CA351999872

Gene: GLB1

Linked Data

• ClinVar Variation Id: 2188026
• ClinVar RCV Id: RCV002623685
• dbSNP Id: rs1696330609
• gnomAD v4: 3-32997067-T-C
• MyVariant Identifiers: chr3:g.33038559T>C (hg19) ; chr3:g.32997067T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997067T>C , CM000665.2:g.32997067T>C	GRCh38
NC_000003.11:g.33038559T>C , CM000665.1:g.33038559T>C	GRCh37
NC_000003.10:g.33013563T>C	NCBI36
NG_009005.1:g.105136A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.2012A>G MANE Select	ENSP00000306920.4:p.Asp671Gly
ENST00000307363.9:c.2012A>G	ENSP00000306920.4:p.Asp671Gly
ENST00000307377.12:c.1619A>G	ENSP00000305920.8:p.Asp540Gly
ENST00000399402.7:c.1922A>G	ENSP00000382333.2:p.Asp641Gly
NM_000404.2:c.2012A>G	NP_000395.2:p.Asp671Gly
NM_000404.3:c.2012A>G	NP_000395.2:p.Asp671Gly
NM_001079811.1:c.1922A>G	NP_001073279.1:p.Asp641Gly
NM_001079811.2:c.1922A>G	NP_001073279.1:p.Asp641Gly
NM_001135602.1:c.1619A>G	NP_001129074.1:p.Asp540Gly
NM_001135602.2:c.1619A>G	NP_001129074.1:p.Asp540Gly
NM_001317040.1:c.2156A>G	NP_001303969.1:p.Asp719Gly
NM_000404.4:c.2012A>G MANE Select	NP_000395.3:p.Asp671Gly
NM_001079811.3:c.1922A>G	NP_001073279.2:p.Asp641Gly
NM_001135602.3:c.1619A>G	NP_001129074.2:p.Asp540Gly
NM_001317040.2:c.2156A>G	NP_001303969.2:p.Asp719Gly
NM_001393580.1:c.1734+16989A>G	NP_001380509.1:n.1734+16989A>G