Canonical Allele Identifier: CA432960323

Gene: GLB1

Linked Data

• gnomAD v4: 3-32997228-G-C
• MyVariant Identifiers: chr3:g.33038720G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997228G>C , CM000665.2:g.32997228G>C	GRCh38
NC_000003.11:g.33038720G>C , CM000665.1:g.33038720G>C	GRCh37
NC_000003.10:g.33013724G>C	NCBI36
NG_009005.1:g.104975C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1851C>G MANE Select	ENSP00000306920.4:p.Thr617=
ENST00000307363.9:c.1851C>G	ENSP00000306920.4:p.Thr617=
ENST00000307377.12:c.1458C>G	ENSP00000305920.8:p.Thr486=
ENST00000399402.7:c.1761C>G	ENSP00000382333.2:p.Thr587=
NM_000404.2:c.1851C>G	NP_000395.2:p.Thr617=
NM_000404.3:c.1851C>G	NP_000395.2:p.Thr617=
NM_001079811.1:c.1761C>G	NP_001073279.1:p.Thr587=
NM_001079811.2:c.1761C>G	NP_001073279.1:p.Thr587=
NM_001135602.1:c.1458C>G	NP_001129074.1:p.Thr486=
NM_001135602.2:c.1458C>G	NP_001129074.1:p.Thr486=
NM_001317040.1:c.1995C>G	NP_001303969.1:p.Thr665=
NM_000404.4:c.1851C>G MANE Select	NP_000395.3:p.Thr617=
NM_001079811.3:c.1761C>G	NP_001073279.2:p.Thr587=
NM_001135602.3:c.1458C>G	NP_001129074.2:p.Thr486=
NM_001317040.2:c.1995C>G	NP_001303969.2:p.Thr665=
NM_001393580.1:c.1734+16828C>G	NP_001380509.1:n.1734+16828C>G