Canonical Allele Identifier: CA432952564

Gene: GLB1

Linked Data

• gnomAD v4: 3-33014095-C-T
• MyVariant Identifiers: chr3:g.33055587C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33014095C>T , CM000665.2:g.33014095C>T	GRCh38
NC_000003.11:g.33055587C>T , CM000665.1:g.33055587C>T	GRCh37
NC_000003.10:g.33030591C>T	NCBI36
NG_009005.1:g.88108G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1695G>A MANE Select	ENSP00000306920.4:p.Leu565=
ENST00000307363.9:c.1695G>A	ENSP00000306920.4:p.Leu565=
ENST00000307377.12:c.1302G>A	ENSP00000305920.8:p.Leu434=
ENST00000399402.7:c.1605G>A	ENSP00000382333.2:p.Leu535=
ENST00000461475.5:n.794G>A
NM_000404.2:c.1695G>A	NP_000395.2:p.Leu565=
NM_000404.3:c.1695G>A	NP_000395.2:p.Leu565=
NM_001079811.1:c.1605G>A	NP_001073279.1:p.Leu535=
NM_001079811.2:c.1605G>A	NP_001073279.1:p.Leu535=
NM_001135602.1:c.1302G>A	NP_001129074.1:p.Leu434=
NM_001135602.2:c.1302G>A	NP_001129074.1:p.Leu434=
NM_001317040.1:c.1839G>A	NP_001303969.1:p.Leu613=
NM_000404.4:c.1695G>A MANE Select	NP_000395.3:p.Leu565=
NM_001079811.3:c.1605G>A	NP_001073279.2:p.Leu535=
NM_001135602.3:c.1302G>A	NP_001129074.2:p.Leu434=
NM_001317040.2:c.1839G>A	NP_001303969.2:p.Leu613=
NM_001393580.1:c.1695G>A	NP_001380509.1:p.Leu565=