Canonical Allele Identifier: CA2299290

Gene: GLB1

Linked Data

• dbSNP Id: rs767436764
• ExAC: 3:33038743 T / TC
• gnomAD v2: 3-33038743-T-TC
• gnomAD v3: 3-32997251-T-TC
• gnomAD v4: 3-32997251-T-TC
• MyVariant Identifiers: chr3:g.33038743_33038744insC (hg19) ; chr3:g.32997251_32997252insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997252dup , CM000665.2:g.32997252dup	GRCh38
NC_000003.11:g.33038744dup , CM000665.1:g.33038744dup	GRCh37
NC_000003.10:g.33013748dup	NCBI36
NG_009005.1:g.104951dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1827dup MANE Select	ENSP00000306920.4:p.Thr610AspfsTer20
ENST00000307363.9:c.1827dup	ENSP00000306920.4:p.Thr610AspfsTer20
ENST00000307377.12:c.1434dup	ENSP00000305920.8:p.Thr479AspfsTer20
ENST00000399402.7:c.1737dup	ENSP00000382333.2:p.Thr580AspfsTer20
NM_000404.2:c.1827dup	NP_000395.2:p.Thr610AspfsTer20
NM_000404.3:c.1827dup	NP_000395.2:p.Thr610AspfsTer20
NM_001079811.1:c.1737dup	NP_001073279.1:p.Thr580AspfsTer20
NM_001079811.2:c.1737dup	NP_001073279.1:p.Thr580AspfsTer20
NM_001135602.1:c.1434dup	NP_001129074.1:p.Thr479AspfsTer20
NM_001135602.2:c.1434dup	NP_001129074.1:p.Thr479AspfsTer20
NM_001317040.1:c.1971dup	NP_001303969.1:p.Thr658AspfsTer20
NM_000404.4:c.1827dup MANE Select	NP_000395.3:p.Thr610AspfsTer20
NM_001079811.3:c.1737dup	NP_001073279.2:p.Thr580AspfsTer20
NM_001135602.3:c.1434dup	NP_001129074.2:p.Thr479AspfsTer20
NM_001317040.2:c.1971dup	NP_001303969.2:p.Thr658AspfsTer20
NM_001393580.1:c.1734+16804dup	NP_001380509.1:n.1734+16804dup