Canonical Allele Identifier: CA2577540136

Gene: GLB1 TMPPE

Linked Data

• gnomAD v4: 3-33096805-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33096805T>C , CM000665.2:g.33096805T>C	GRCh38
NC_000003.11:g.33138297T>C , CM000665.1:g.33138297T>C	GRCh37
NC_000003.10:g.33113301T>C	NCBI36
NG_009005.1:g.5398A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.75+206A>G (GLB1) MANE Select	ENSP00000306920.4:n.75+206A>G
ENST00000342462.5:c.-195A>G (TMPPE) MANE Select	ENSP00000343398.4:n.-195A>G
ENST00000307363.9:c.75+206A>G (GLB1)	ENSP00000306920.4:n.75+206A>G
ENST00000307377.12:c.75+206A>G (GLB1)	ENSP00000305920.8:n.75+206A>G
ENST00000399402.7:c.-102A>G (GLB1)	ENSP00000382333.2:n.-102A>G
ENST00000415454.1:c.75+206A>G (GLB1)	ENSP00000411813.1:n.75+206A>G
ENST00000436768.1:c.75+206A>G (GLB1)	ENSP00000387989.1:n.75+206A>G
ENST00000438227.1:c.75+206A>G (GLB1)	ENSP00000401250.1:n.75+206A>G
ENST00000440656.1:c.-149+206A>G (GLB1)	ENSP00000411769.1:n.-149+206A>G
ENST00000464355.1:n.33+206A>G (GLB1)
ENST00000482097.5:n.108+206A>G (GLB1)
ENST00000485698.5:n.136+206A>G (GLB1)
ENST00000498537.5:n.132+206A>G (GLB1)
NM_000404.2:c.75+206A>G (GLB1)	NP_000395.2:n.75+206A>G
NM_000404.3:c.75+206A>G (GLB1)	NP_000395.2:n.75+206A>G
NM_001079811.1:c.-102A>G (GLB1)	NP_001073279.1:n.-102A>G
NM_001079811.2:c.-102A>G (GLB1)	NP_001073279.1:n.-102A>G
NM_001135602.1:c.75+206A>G (GLB1)	NP_001129074.1:n.75+206A>G
NM_001135602.2:c.75+206A>G (GLB1)	NP_001129074.1:n.75+206A>G
NM_001317040.1:c.75+206A>G (GLB1)	NP_001303969.1:n.75+206A>G
NM_000404.4:c.75+206A>G (GLB1) MANE Select	NP_000395.3:n.75+206A>G
NM_001039770.3:c.-195A>G (TMPPE) MANE Select	NP_001034859.2:n.-195A>G
NM_001136238.2:c.-91A>G (TMPPE)	NP_001129710.1:n.-91A>G
NM_001079811.3:c.-102A>G (GLB1)	NP_001073279.2:n.-102A>G
NM_001135602.3:c.75+206A>G (GLB1)	NP_001129074.2:n.75+206A>G
NM_001317040.2:c.75+206A>G (GLB1)	NP_001303969.2:n.75+206A>G
NM_001393580.1:c.75+206A>G (GLB1)	NP_001380509.1:n.75+206A>G