Canonical Allele Identifier: CA114651
Gene: GLB1 HGNC NCBI
TMPPE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33097009dup , CM000665.2:g.33097009dup GRCh38
NC_000003.11:g.33138501dup , CM000665.1:g.33138501dup GRCh37
NC_000003.10:g.33113505dup NCBI36
NG_009005.1:g.5194dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.75+2dup (GLB1) MANE Select ENSP00000306920.4:n.75+2dup
ENST00000342462.5:c.-399dup (TMPPE) MANE Select ENSP00000343398.4:n.-399dup
ENST00000307363.9:c.75+2dup (GLB1) ENSP00000306920.4:n.75+2dup
ENST00000307377.12:c.75+2dup (GLB1) ENSP00000305920.8:n.75+2dup
ENST00000415454.1:c.75+2dup (GLB1) ENSP00000411813.1:n.75+2dup
ENST00000436768.1:c.75+2dup (GLB1) ENSP00000387989.1:n.75+2dup
ENST00000438227.1:c.75+2dup (GLB1) ENSP00000401250.1:n.75+2dup
ENST00000440656.1:c.-149+2dup (GLB1) ENSP00000411769.1:n.-149+2dup
ENST00000464355.1:n.33+2dup (GLB1)
ENST00000482097.5:n.108+2dup (GLB1)
ENST00000485698.5:n.136+2dup (GLB1)
ENST00000498537.5:n.132+2dup (GLB1)
NM_000404.2:c.75+2dup (GLB1) NP_000395.2:n.75+2dup
NM_000404.3:c.75+2dup (GLB1) NP_000395.2:n.75+2dup
NM_001135602.1:c.75+2dup (GLB1) NP_001129074.1:n.75+2dup
NM_001135602.2:c.75+2dup (GLB1) NP_001129074.1:n.75+2dup
NM_001317040.1:c.75+2dup (GLB1) NP_001303969.1:n.75+2dup
NM_000404.4:c.75+2dup (GLB1) MANE Select NP_000395.3:n.75+2dup
NM_001039770.3:c.-399dup (TMPPE) MANE Select NP_001034859.2:n.-399dup
NM_001136238.2:c.-295dup (TMPPE) NP_001129710.1:n.-295dup
NM_001135602.3:c.75+2dup (GLB1) NP_001129074.2:n.75+2dup
NM_001317040.2:c.75+2dup (GLB1) NP_001303969.2:n.75+2dup
NM_001393580.1:c.75+2dup (GLB1) NP_001380509.1:n.75+2dup
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