Canonical Allele Identifier: CA1356021247

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33096771G= , CM000665.2:g.33096771G= GRCh38
NC_000003.11:g.33138263G= , CM000665.1:g.33138263G= GRCh37
NC_000003.10:g.33113267G= NCBI36
NG_009005.1:g.5432C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.75+240C= (GLB1) MANE Select ENSP00000306920.4:n.75+240C=
ENST00000342462.5:c.-161C= (TMPPE) MANE Select ENSP00000343398.4:n.-161C=
ENST00000307363.9:c.75+240C= (GLB1) ENSP00000306920.4:n.75+240C=
ENST00000307377.12:c.75+240C= (GLB1) ENSP00000305920.8:n.75+240C=
ENST00000342462.4:c.-161C= (TMPPE) ENSP00000343398.4:n.-161C=
ENST00000399402.7:c.-68C= (GLB1) ENSP00000382333.2:n.-68C=
ENST00000415454.1:c.75+240C= (GLB1) ENSP00000411813.1:n.75+240C=
ENST00000416695.6:c.-57C= (TMPPE) ENSP00000400715.2:n.-57C=
ENST00000436768.1:c.75+240C= (GLB1) ENSP00000387989.1:n.75+240C=
ENST00000438227.1:c.75+240C= (GLB1) ENSP00000401250.1:n.75+240C=
ENST00000440656.1:c.-149+240C= (GLB1) ENSP00000411769.1:n.-149+240C=
ENST00000450835.1:c.-212C= (GLB1) ENSP00000403264.1:n.-212C=
ENST00000464355.1:n.33+240C= (GLB1)
ENST00000482097.5:n.108+240C= (GLB1)
ENST00000485698.5:n.136+240C= (GLB1)
ENST00000498537.5:n.132+240C= (GLB1)
NM_000404.2:c.75+240C= (GLB1) NP_000395.2:n.75+240C=
NM_000404.3:c.75+240C= (GLB1) NP_000395.2:n.75+240C=
NM_001039770.2:c.-161C= (TMPPE) NP_001034859.2:n.-161C=
NM_001079811.1:c.-68C= (GLB1) NP_001073279.1:n.-68C=
NM_001079811.2:c.-68C= (GLB1) NP_001073279.1:n.-68C=
NM_001135602.1:c.75+240C= (GLB1) NP_001129074.1:n.75+240C=
NM_001135602.2:c.75+240C= (GLB1) NP_001129074.1:n.75+240C=
NM_001136238.1:c.-57C= (TMPPE) NP_001129710.1:n.-57C=
NM_001317040.1:c.75+240C= (GLB1) NP_001303969.1:n.75+240C=
NM_000404.4:c.75+240C= (GLB1) MANE Select NP_000395.3:n.75+240C=
NM_001039770.3:c.-161C= (TMPPE) MANE Select NP_001034859.2:n.-161C=
NM_001136238.2:c.-57C= (TMPPE) NP_001129710.1:n.-57C=
NM_001079811.3:c.-68C= (GLB1) NP_001073279.2:n.-68C=
NM_001135602.3:c.75+240C= (GLB1) NP_001129074.2:n.75+240C=
NM_001317040.2:c.75+240C= (GLB1) NP_001303969.2:n.75+240C=
NM_001393580.1:c.75+240C= (GLB1) NP_001380509.1:n.75+240C=