Canonical Allele Identifier: CA1355987484
Gene: GLB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33021526C= , CM000665.2:g.33021526C= GRCh38
NC_000003.11:g.33063018C= , CM000665.1:g.33063018C= GRCh37
NC_000003.10:g.33038022C= NCBI36
NG_009005.1:g.80677G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.1233+40G= MANE Select ENSP00000306920.4:n.1233+40G=
ENST00000307363.9:c.1233+40G= ENSP00000306920.4:n.1233+40G=
ENST00000307377.12:c.840+40G= ENSP00000305920.8:n.840+40G=
ENST00000399402.7:c.1143+40G= ENSP00000382333.2:n.1143+40G=
ENST00000461475.5:n.332+40G=
ENST00000467571.5:n.270+40G=
ENST00000473477.1:n.305G=
ENST00000497796.5:n.485+40G=
NM_000404.2:c.1233+40G= NP_000395.2:n.1233+40G=
NM_000404.3:c.1233+40G= NP_000395.2:n.1233+40G=
NM_001079811.1:c.1143+40G= NP_001073279.1:n.1143+40G=
NM_001079811.2:c.1143+40G= NP_001073279.1:n.1143+40G=
NM_001135602.1:c.840+40G= NP_001129074.1:n.840+40G=
NM_001135602.2:c.840+40G= NP_001129074.1:n.840+40G=
NM_001317040.1:c.1377+40G= NP_001303969.1:n.1377+40G=
XR_001740634.1:n.1543-662C=
NM_000404.4:c.1233+40G= MANE Select NP_000395.3:n.1233+40G=
NM_001079811.3:c.1143+40G= NP_001073279.2:n.1143+40G=
NM_001135602.3:c.840+40G= NP_001129074.2:n.840+40G=
NM_001317040.2:c.1377+40G= NP_001303969.2:n.1377+40G=
NM_001393580.1:c.1233+40G= NP_001380509.1:n.1233+40G=