Canonical Allele Identifier: CA2299551

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051756A>C , CM000665.2:g.33051756A>C	GRCh38
NC_000003.11:g.33093248A>C , CM000665.1:g.33093248A>C	GRCh37
NC_000003.10:g.33068252A>C	NCBI36
NG_009005.1:g.50447T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.955+2T>G MANE Select	NP_000395.3:n.955+2T>G
ENST00000307363.10:c.955+2T>G MANE Select	ENSP00000306920.4:n.955+2T>G
NM_000404.2:c.955+2T>G	NP_000395.2:n.955+2T>G
NM_000404.3:c.955+2T>G	NP_000395.2:n.955+2T>G
NM_001079811.1:c.865+2T>G	NP_001073279.1:n.865+2T>G
NM_001079811.2:c.865+2T>G	NP_001073279.1:n.865+2T>G
NM_001079811.3:c.865+2T>G	NP_001073279.2:n.865+2T>G
NM_001135602.1:c.562+2T>G	NP_001129074.1:n.562+2T>G
NM_001135602.2:c.562+2T>G	NP_001129074.1:n.562+2T>G
NM_001135602.3:c.562+2T>G	NP_001129074.2:n.562+2T>G
NM_001317040.1:c.1099+2T>G	NP_001303969.1:n.1099+2T>G
NM_001317040.2:c.1099+2T>G	NP_001303969.2:n.1099+2T>G
NM_001393580.1:c.955+2T>G	NP_001380509.1:n.955+2T>G
ENST00000307363.9:c.955+2T>G	ENSP00000306920.4:n.955+2T>G
ENST00000307377.12:c.562+2T>G	ENSP00000305920.8:n.562+2T>G
ENST00000399402.7:c.865+2T>G	ENSP00000382333.2:n.865+2T>G
ENST00000415454.1:c.478+2T>G	ENSP00000411813.1:n.478+2T>G
ENST00000482097.5:n.330+2T>G
ENST00000485698.5:n.358+2T>G
ENST00000498537.5:n.481+2T>G