Canonical Allele Identifier: CA114671

Gene: GLB1

Linked Data

• ClinVar Variation Id: 948
• ClinVar RCV Id: RCV000000998 ; RCV000673090
• dbSNP Id: rs72555371
• ExAC: 3:33038799 T / C
• gnomAD v2: 3-33038799-T-C
• gnomAD v4: 3-32997307-T-C
• COSMIC: COSM3945392 ; COSM3945393
• MyVariant Identifiers: chr3:g.33038799T>C (hg19) ; chr3:g.32997307T>C (hg38)
• PubMed: PMID:10737981

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997307T>C , CM000665.2:g.32997307T>C	GRCh38
NC_000003.11:g.33038799T>C , CM000665.1:g.33038799T>C	GRCh37
NC_000003.10:g.33013803T>C	NCBI36
NG_009005.1:g.104896A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.1772A>G MANE Select	ENSP00000306920.4:p.Tyr591Cys
ENST00000307363.9:c.1772A>G	ENSP00000306920.4:p.Tyr591Cys
ENST00000307377.12:c.1379A>G	ENSP00000305920.8:p.Tyr460Cys
ENST00000399402.7:c.1682A>G	ENSP00000382333.2:p.Tyr561Cys
NM_000404.2:c.1772A>G	NP_000395.2:p.Tyr591Cys
NM_000404.3:c.1772A>G	NP_000395.2:p.Tyr591Cys
NM_001079811.1:c.1682A>G	NP_001073279.1:p.Tyr561Cys
NM_001079811.2:c.1682A>G	NP_001073279.1:p.Tyr561Cys
NM_001135602.1:c.1379A>G	NP_001129074.1:p.Tyr460Cys
NM_001135602.2:c.1379A>G	NP_001129074.1:p.Tyr460Cys
NM_001317040.1:c.1916A>G	NP_001303969.1:p.Tyr639Cys
NM_000404.4:c.1772A>G MANE Select	NP_000395.3:p.Tyr591Cys
NM_001079811.3:c.1682A>G	NP_001073279.2:p.Tyr561Cys
NM_001135602.3:c.1379A>G	NP_001129074.2:p.Tyr460Cys
NM_001317040.2:c.1916A>G	NP_001303969.2:p.Tyr639Cys
NM_001393580.1:c.1734+16749A>G	NP_001380509.1:n.1734+16749A>G