Canonical Allele Identifier: CA432953006

Gene: GLB1

Linked Data

• gnomAD v4: 3-33018487-G-T
• MyVariant Identifiers: chr3:g.33059979G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33018487G>T , CM000665.2:g.33018487G>T	GRCh38
NC_000003.11:g.33059979G>T , CM000665.1:g.33059979G>T	GRCh37
NC_000003.10:g.33034983G>T	NCBI36
NG_009005.1:g.83716C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1308C>A MANE Select	ENSP00000306920.4:p.Leu436=
ENST00000307363.9:c.1308C>A	ENSP00000306920.4:p.Leu436=
ENST00000307377.12:c.915C>A	ENSP00000305920.8:p.Leu305=
ENST00000399402.7:c.1218C>A	ENSP00000382333.2:p.Leu406=
ENST00000461475.5:n.407C>A
ENST00000467571.5:n.345C>A
ENST00000497796.5:n.560C>A
NM_000404.2:c.1308C>A	NP_000395.2:p.Leu436=
NM_000404.3:c.1308C>A	NP_000395.2:p.Leu436=
NM_001079811.1:c.1218C>A	NP_001073279.1:p.Leu406=
NM_001079811.2:c.1218C>A	NP_001073279.1:p.Leu406=
NM_001135602.1:c.915C>A	NP_001129074.1:p.Leu305=
NM_001135602.2:c.915C>A	NP_001129074.1:p.Leu305=
NM_001317040.1:c.1452C>A	NP_001303969.1:p.Leu484=
NM_000404.4:c.1308C>A MANE Select	NP_000395.3:p.Leu436=
NM_001079811.3:c.1218C>A	NP_001073279.2:p.Leu406=
NM_001135602.3:c.915C>A	NP_001129074.2:p.Leu305=
NM_001317040.2:c.1452C>A	NP_001303969.2:p.Leu484=
NM_001393580.1:c.1308C>A	NP_001380509.1:p.Leu436=