Canonical Allele Identifier: CA114638

Gene: GLB1

Linked Data

• ClinVar Variation Id: 929
• ClinVar RCV Id: RCV000000977 ; RCV000673295
• dbSNP Id: rs72555361
• gnomAD v4: 3-33051766-T-C
• MyVariant Identifiers: chr3:g.33093258T>C (hg19) ; chr3:g.33051766T>C (hg38)
• PubMed: PMID:1606711 ; PMID:1907800

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051766T>C , CM000665.2:g.33051766T>C	GRCh38
NC_000003.11:g.33093258T>C , CM000665.1:g.33093258T>C	GRCh37
NC_000003.10:g.33068262T>C	NCBI36
NG_009005.1:g.50437A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.947A>G MANE Select	ENSP00000306920.4:p.Tyr316Cys
ENST00000307363.9:c.947A>G	ENSP00000306920.4:p.Tyr316Cys
ENST00000307377.12:c.554A>G	ENSP00000305920.8:p.Tyr185Cys
ENST00000399402.7:c.857A>G	ENSP00000382333.2:p.Tyr286Cys
ENST00000415454.1:c.470A>G	ENSP00000411813.1:p.Tyr157Cys
ENST00000482097.5:n.322A>G
ENST00000485698.5:n.350A>G
ENST00000498537.5:n.473A>G
NM_000404.2:c.947A>G	NP_000395.2:p.Tyr316Cys
NM_000404.3:c.947A>G	NP_000395.2:p.Tyr316Cys
NM_001079811.1:c.857A>G	NP_001073279.1:p.Tyr286Cys
NM_001079811.2:c.857A>G	NP_001073279.1:p.Tyr286Cys
NM_001135602.1:c.554A>G	NP_001129074.1:p.Tyr185Cys
NM_001135602.2:c.554A>G	NP_001129074.1:p.Tyr185Cys
NM_001317040.1:c.1091A>G	NP_001303969.1:p.Tyr364Cys
NM_000404.4:c.947A>G MANE Select	NP_000395.3:p.Tyr316Cys
NM_001079811.3:c.857A>G	NP_001073279.2:p.Tyr286Cys
NM_001135602.3:c.554A>G	NP_001129074.2:p.Tyr185Cys
NM_001317040.2:c.1091A>G	NP_001303969.2:p.Tyr364Cys
NM_001393580.1:c.947A>G	NP_001380509.1:p.Tyr316Cys