Canonical Allele Identifier: CA114660

Gene: GLB1

Linked Data

• ClinVar Variation Id: 942
• ClinVar RCV Id: RCV000000991 ; RCV000673423 ; RCV001040694 ; RCV001818116 ; RCV002281685 ; RCV003137481
• dbSNP Id: rs72555368
• ExAC: 3:33055784 T / C
• gnomAD v2: 3-33055784-T-C
• gnomAD v4: 3-33014292-T-C
• MyVariant Identifiers: chr3:g.33055784T>C (hg19) ; chr3:g.33014292T>C (hg38)
• PubMed: PMID:10841810 ; PMID:11511921

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33014292T>C , CM000665.2:g.33014292T>C	GRCh38
NC_000003.11:g.33055784T>C , CM000665.1:g.33055784T>C	GRCh37
NC_000003.10:g.33030788T>C	NCBI36
NG_009005.1:g.87911A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1498A>G MANE Select	ENSP00000306920.4:p.Thr500Ala
ENST00000307363.9:c.1498A>G	ENSP00000306920.4:p.Thr500Ala
ENST00000307377.12:c.1105A>G	ENSP00000305920.8:p.Thr369Ala
ENST00000399402.7:c.1408A>G	ENSP00000382333.2:p.Thr470Ala
ENST00000461475.5:n.597A>G
ENST00000497796.5:n.750A>G
NM_000404.2:c.1498A>G	NP_000395.2:p.Thr500Ala
NM_000404.3:c.1498A>G	NP_000395.2:p.Thr500Ala
NM_001079811.1:c.1408A>G	NP_001073279.1:p.Thr470Ala
NM_001079811.2:c.1408A>G	NP_001073279.1:p.Thr470Ala
NM_001135602.1:c.1105A>G	NP_001129074.1:p.Thr369Ala
NM_001135602.2:c.1105A>G	NP_001129074.1:p.Thr369Ala
NM_001317040.1:c.1642A>G	NP_001303969.1:p.Thr548Ala
NM_000404.4:c.1498A>G MANE Select	NP_000395.3:p.Thr500Ala
NM_001079811.3:c.1408A>G	NP_001073279.2:p.Thr470Ala
NM_001135602.3:c.1105A>G	NP_001129074.2:p.Thr369Ala
NM_001317040.2:c.1642A>G	NP_001303969.2:p.Thr548Ala
NM_001393580.1:c.1498A>G	NP_001380509.1:p.Thr500Ala