Canonical Allele Identifier: CA352002670

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33053509A>T , CM000665.2:g.33053509A>T	GRCh38
NC_000003.11:g.33095001A>T , CM000665.1:g.33095001A>T	GRCh37
NC_000003.10:g.33070005A>T	NCBI36
NG_009005.1:g.48694T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.774T>A MANE Select	NP_000395.3:p.Cys258Ter
ENST00000307363.10:c.774T>A MANE Select	ENSP00000306920.4:p.Cys258Ter
NM_000404.2:c.774T>A	NP_000395.2:p.Cys258Ter
NM_000404.3:c.774T>A	NP_000395.2:p.Cys258Ter
NM_001079811.1:c.684T>A	NP_001073279.1:p.Cys228Ter
NM_001079811.2:c.684T>A	NP_001073279.1:p.Cys228Ter
NM_001079811.3:c.684T>A	NP_001073279.2:p.Cys228Ter
NM_001135602.1:c.381T>A	NP_001129074.1:p.Cys127Ter
NM_001135602.2:c.381T>A	NP_001129074.1:p.Cys127Ter
NM_001135602.3:c.381T>A	NP_001129074.2:p.Cys127Ter
NM_001317040.1:c.918T>A	NP_001303969.1:p.Cys306Ter
NM_001317040.2:c.918T>A	NP_001303969.2:p.Cys306Ter
NM_001393580.1:c.774T>A	NP_001380509.1:p.Cys258Ter
ENST00000307363.9:c.774T>A	ENSP00000306920.4:p.Cys258Ter
ENST00000307377.12:c.381T>A	ENSP00000305920.8:p.Cys127Ter
ENST00000399402.7:c.684T>A	ENSP00000382333.2:p.Cys228Ter
ENST00000415454.1:c.297T>A	ENSP00000411813.1:p.Cys99Ter
ENST00000438227.1:c.*266T>A	ENSP00000401250.1:n.*266T>A
ENST00000446732.5:c.*217T>A	ENSP00000407365.1:n.*217T>A
ENST00000482097.5:n.149T>A
ENST00000485698.5:n.177T>A
ENST00000498537.5:n.173T>A