Canonical Allele Identifier: CA72668868
Community Standard Title: NM_000404.4(GLB1):c.534G>A (p.Gly178=)
Gene: GLB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33065481C>T , CM000665.2:g.33065481C>T GRCh38
NC_000003.11:g.33106973C>T , CM000665.1:g.33106973C>T GRCh37
NC_000003.10:g.33081977C>T NCBI36
NG_009005.1:g.36722G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000404.4:c.534G>A MANE Select NP_000395.3:p.Gly178=
ENST00000307363.10:c.534G>A MANE Select ENSP00000306920.4:p.Gly178=
NM_000404.2:c.534G>A NP_000395.2:p.Gly178=
NM_000404.3:c.534G>A NP_000395.2:p.Gly178=
NM_001079811.1:c.444G>A NP_001073279.1:p.Gly148=
NM_001079811.2:c.444G>A NP_001073279.1:p.Gly148=
NM_001079811.3:c.444G>A NP_001073279.2:p.Gly148=
NM_001135602.1:c.322G>A NP_001129074.1:p.Ala108Thr
NM_001135602.2:c.322G>A NP_001129074.1:p.Ala108Thr
NM_001135602.3:c.322G>A NP_001129074.2:p.Ala108Thr
NM_001317040.1:c.678G>A NP_001303969.1:p.Gly226=
NM_001317040.2:c.678G>A NP_001303969.2:p.Gly226=
NM_001393580.1:c.534G>A NP_001380509.1:p.Gly178=
ENST00000307363.9:c.534G>A ENSP00000306920.4:p.Gly178=
ENST00000307377.12:c.322G>A ENSP00000305920.8:p.Ala108Thr
ENST00000399402.7:c.444G>A ENSP00000382333.2:p.Gly148=
ENST00000415454.1:c.76-7212G>A ENSP00000411813.1:n.76-7212G>A
ENST00000438227.1:c.*26G>A ENSP00000401250.1:n.*26G>A
ENST00000440656.1:c.141G>A ENSP00000411769.1:p.Gly47=
ENST00000446732.5:c.232G>A ENSP00000407365.1:p.Ala78Thr
ENST00000464355.1:n.492G>A
ENST00000482097.5:n.109-11932G>A
ENST00000485698.5:n.137-11932G>A
ENST00000498537.5:n.133-11932G>A