Canonical Allele Identifier: CA2840071766

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33014082dup , CM000665.2:g.33014082dup	GRCh38
NC_000003.11:g.33055574dup , CM000665.1:g.33055574dup	GRCh37
NC_000003.10:g.33030578dup	NCBI36
NG_009005.1:g.88123dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1710dup MANE Select	ENSP00000306920.4:p.Ile571TyrfsTer14
ENST00000307363.9:c.1710dup	ENSP00000306920.4:p.Ile571TyrfsTer14
ENST00000307377.12:c.1317dup	ENSP00000305920.8:p.Ile440TyrfsTer14
ENST00000399402.7:c.1620dup	ENSP00000382333.2:p.Ile541TyrfsTer14
ENST00000461475.5:n.809dup
NM_000404.2:c.1710dup	NP_000395.2:p.Ile571TyrfsTer14
NM_000404.3:c.1710dup	NP_000395.2:p.Ile571TyrfsTer14
NM_001079811.1:c.1620dup	NP_001073279.1:p.Ile541TyrfsTer14
NM_001079811.2:c.1620dup	NP_001073279.1:p.Ile541TyrfsTer14
NM_001135602.1:c.1317dup	NP_001129074.1:p.Ile440TyrfsTer14
NM_001135602.2:c.1317dup	NP_001129074.1:p.Ile440TyrfsTer14
NM_001317040.1:c.1854dup	NP_001303969.1:p.Ile619TyrfsTer14
NM_000404.4:c.1710dup MANE Select	NP_000395.3:p.Ile571TyrfsTer14
NM_001079811.3:c.1620dup	NP_001073279.2:p.Ile541TyrfsTer14
NM_001135602.3:c.1317dup	NP_001129074.2:p.Ile440TyrfsTer14
NM_001317040.2:c.1854dup	NP_001303969.2:p.Ile619TyrfsTer14
NM_001393580.1:c.1710dup	NP_001380509.1:p.Ile571TyrfsTer?