Canonical Allele Identifier: CA352001237

Gene: GLB1

Linked Data

• ClinVar Variation Id: 2199198
• ClinVar RCV Id: RCV002634196
• dbSNP Id: rs1430384579
• gnomAD v2: 3-33093394-G-A
• gnomAD v4: 3-33051902-G-A
• MyVariant Identifiers: chr3:g.33093394G>A (hg19) ; chr3:g.33051902G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051902G>A , CM000665.2:g.33051902G>A	GRCh38
NC_000003.11:g.33093394G>A , CM000665.1:g.33093394G>A	GRCh37
NC_000003.10:g.33068398G>A	NCBI36
NG_009005.1:g.50301C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.895C>T MANE Select	ENSP00000306920.4:p.Arg299Cys
ENST00000307363.9:c.895C>T	ENSP00000306920.4:p.Arg299Cys
ENST00000307377.12:c.502C>T	ENSP00000305920.8:p.Arg168Cys
ENST00000399402.7:c.805C>T	ENSP00000382333.2:p.Arg269Cys
ENST00000415454.1:c.418C>T	ENSP00000411813.1:p.Arg140Cys
ENST00000446732.5:c.*338C>T	ENSP00000407365.1:n.*338C>T
ENST00000482097.5:n.270C>T
ENST00000485698.5:n.298C>T
ENST00000498537.5:n.421C>T
NM_000404.2:c.895C>T	NP_000395.2:p.Arg299Cys
NM_000404.3:c.895C>T	NP_000395.2:p.Arg299Cys
NM_001079811.1:c.805C>T	NP_001073279.1:p.Arg269Cys
NM_001079811.2:c.805C>T	NP_001073279.1:p.Arg269Cys
NM_001135602.1:c.502C>T	NP_001129074.1:p.Arg168Cys
NM_001135602.2:c.502C>T	NP_001129074.1:p.Arg168Cys
NM_001317040.1:c.1039C>T	NP_001303969.1:p.Arg347Cys
NM_000404.4:c.895C>T MANE Select	NP_000395.3:p.Arg299Cys
NM_001079811.3:c.805C>T	NP_001073279.2:p.Arg269Cys
NM_001135602.3:c.502C>T	NP_001129074.2:p.Arg168Cys
NM_001317040.2:c.1039C>T	NP_001303969.2:p.Arg347Cys
NM_001393580.1:c.895C>T	NP_001380509.1:p.Arg299Cys