Canonical Allele Identifier: CA202709

Gene: GLB1

Linked Data

• ClinVar Variation Id: 92906
• ClinVar RCV Id: RCV000178086 ; RCV000667741 ; RCV001211514
• dbSNP Id: rs398123353
• ExAC: 3:33109783 C / T
• gnomAD v2: 3-33109783-C-T
• gnomAD v4: 3-33068291-C-T
• MyVariant Identifiers: chr3:g.33109783C>T (hg19) ; chr3:g.33068291C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33068291C>T , CM000665.2:g.33068291C>T	GRCh38
NC_000003.11:g.33109783C>T , CM000665.1:g.33109783C>T	GRCh37
NC_000003.10:g.33084787C>T	NCBI36
NG_009005.1:g.33912G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.397-1G>A MANE Select	ENSP00000306920.4:n.397-1G>A
ENST00000307363.9:c.397-1G>A	ENSP00000306920.4:n.397-1G>A
ENST00000307377.12:c.246-2734G>A	ENSP00000305920.8:n.246-2734G>A
ENST00000399402.7:c.307-1G>A	ENSP00000382333.2:n.307-1G>A
ENST00000415454.1:c.76-10022G>A	ENSP00000411813.1:n.76-10022G>A
ENST00000438227.1:c.76-2734G>A	ENSP00000401250.1:n.76-2734G>A
ENST00000440656.1:c.4-1G>A	ENSP00000411769.1:n.4-1G>A
ENST00000446732.5:c.156-2734G>A	ENSP00000407365.1:n.156-2734G>A
ENST00000464355.1:n.355-1G>A
ENST00000482097.5:n.109-14742G>A
ENST00000485698.5:n.137-14742G>A
ENST00000498537.5:n.133-14742G>A
NM_000404.2:c.397-1G>A	NP_000395.2:n.397-1G>A
NM_000404.3:c.397-1G>A	NP_000395.2:n.397-1G>A
NM_001079811.1:c.307-1G>A	NP_001073279.1:n.307-1G>A
NM_001079811.2:c.307-1G>A	NP_001073279.1:n.307-1G>A
NM_001135602.1:c.246-2734G>A	NP_001129074.1:n.246-2734G>A
NM_001135602.2:c.246-2734G>A	NP_001129074.1:n.246-2734G>A
NM_001317040.1:c.541-1G>A	NP_001303969.1:n.541-1G>A
NM_000404.4:c.397-1G>A MANE Select	NP_000395.3:n.397-1G>A
NM_001079811.3:c.307-1G>A	NP_001073279.2:n.307-1G>A
NM_001135602.3:c.246-2734G>A	NP_001129074.2:n.246-2734G>A
NM_001317040.2:c.541-1G>A	NP_001303969.2:n.541-1G>A
NM_001393580.1:c.397-1G>A	NP_001380509.1:n.397-1G>A