Canonical Allele Identifier: CA2300160

Gene: GLB1 TMPPE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33097133C>G , CM000665.2:g.33097133C>G	GRCh38
NC_000003.11:g.33138625C>G , CM000665.1:g.33138625C>G	GRCh37
NC_000003.10:g.33113629C>G	NCBI36
NG_009005.1:g.5070G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.-48G>C (GLB1) MANE Select	NP_000395.3:n.-48G>C
NM_001039770.3:c.-523G>C (TMPPE) MANE Select	NP_001034859.2:n.-523G>C
ENST00000307363.10:c.-48G>C (GLB1) MANE Select	ENSP00000306920.4:n.-48G>C
ENST00000342462.5:c.-523G>C (TMPPE) MANE Select	ENSP00000343398.4:n.-523G>C
NM_000404.2:c.-48G>C (GLB1)	NP_000395.2:n.-48G>C
NM_000404.3:c.-48G>C (GLB1)	NP_000395.2:n.-48G>C
NM_001135602.1:c.-48G>C (GLB1)	NP_001129074.1:n.-48G>C
NM_001135602.2:c.-48G>C (GLB1)	NP_001129074.1:n.-48G>C
NM_001135602.3:c.-48G>C (GLB1)	NP_001129074.2:n.-48G>C
NM_001136238.2:c.-419G>C (TMPPE)	NP_001129710.1:n.-419G>C
NM_001317040.1:c.-48G>C (GLB1)	NP_001303969.1:n.-48G>C
NM_001317040.2:c.-48G>C (GLB1)	NP_001303969.2:n.-48G>C
NM_001393580.1:c.-48G>C (GLB1)	NP_001380509.1:n.-48G>C
ENST00000307363.9:c.-48G>C (GLB1)	ENSP00000306920.4:n.-48G>C
ENST00000307377.12:c.-48G>C (GLB1)	ENSP00000305920.8:n.-48G>C
ENST00000436768.1:c.-48G>C (GLB1)	ENSP00000387989.1:n.-48G>C
ENST00000438227.1:c.-48G>C (GLB1)	ENSP00000401250.1:n.-48G>C
ENST00000440656.1:c.-271G>C (GLB1)	ENSP00000411769.1:n.-271G>C
ENST00000485698.5:n.14G>C (GLB1)
ENST00000498537.5:n.10G>C (GLB1)