Canonical Allele Identifier: CA1355976932
Gene: GLB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.32997182G= , CM000665.2:g.32997182G= GRCh38
NC_000003.11:g.33038674G= , CM000665.1:g.33038674G= GRCh37
NC_000003.10:g.33013678G= NCBI36
NG_009005.1:g.105021C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.1897C= MANE Select ENSP00000306920.4:p.Leu633=
ENST00000307363.9:c.1897C= ENSP00000306920.4:p.Leu633=
ENST00000307377.12:c.1504C= ENSP00000305920.8:p.Leu502=
ENST00000399402.7:c.1807C= ENSP00000382333.2:p.Leu603=
NM_000404.2:c.1897C= NP_000395.2:p.Leu633=
NM_000404.3:c.1897C= NP_000395.2:p.Leu633=
NM_001079811.1:c.1807C= NP_001073279.1:p.Leu603=
NM_001079811.2:c.1807C= NP_001073279.1:p.Leu603=
NM_001135602.1:c.1504C= NP_001129074.1:p.Leu502=
NM_001135602.2:c.1504C= NP_001129074.1:p.Leu502=
NM_001317040.1:c.2041C= NP_001303969.1:p.Leu681=
NM_000404.4:c.1897C= MANE Select NP_000395.3:p.Leu633=
NM_001079811.3:c.1807C= NP_001073279.2:p.Leu603=
NM_001135602.3:c.1504C= NP_001129074.2:p.Leu502=
NM_001317040.2:c.2041C= NP_001303969.2:p.Leu681=
NM_001393580.1:c.1734+16874C= NP_001380509.1:n.1734+16874C=