Canonical Allele Identifier: CA352000835

Gene: GLB1

Linked Data

• gnomAD v4: 3-32997333-C-A
• MyVariant Identifiers: chr3:g.33038825C>A (hg19) ; chr3:g.32997333C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997333C>A , CM000665.2:g.32997333C>A	GRCh38
NC_000003.11:g.33038825C>A , CM000665.1:g.33038825C>A	GRCh37
NC_000003.10:g.33013829C>A	NCBI36
NG_009005.1:g.104870G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.1746G>T MANE Select	ENSP00000306920.4:p.Trp582Cys
ENST00000307363.9:c.1746G>T	ENSP00000306920.4:p.Trp582Cys
ENST00000307377.12:c.1353G>T	ENSP00000305920.8:p.Trp451Cys
ENST00000399402.7:c.1656G>T	ENSP00000382333.2:p.Trp552Cys
NM_000404.2:c.1746G>T	NP_000395.2:p.Trp582Cys
NM_000404.3:c.1746G>T	NP_000395.2:p.Trp582Cys
NM_001079811.1:c.1656G>T	NP_001073279.1:p.Trp552Cys
NM_001079811.2:c.1656G>T	NP_001073279.1:p.Trp552Cys
NM_001135602.1:c.1353G>T	NP_001129074.1:p.Trp451Cys
NM_001135602.2:c.1353G>T	NP_001129074.1:p.Trp451Cys
NM_001317040.1:c.1890G>T	NP_001303969.1:p.Trp630Cys
NM_000404.4:c.1746G>T MANE Select	NP_000395.3:p.Trp582Cys
NM_001079811.3:c.1656G>T	NP_001073279.2:p.Trp552Cys
NM_001135602.3:c.1353G>T	NP_001129074.2:p.Trp451Cys
NM_001317040.2:c.1890G>T	NP_001303969.2:p.Trp630Cys
NM_001393580.1:c.1734+16723G>T	NP_001380509.1:n.1734+16723G>T