Canonical Allele Identifier: CA1355976987
Gene: GLB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.32997317G= , CM000665.2:g.32997317G= GRCh38
NC_000003.11:g.33038809G= , CM000665.1:g.33038809G= GRCh37
NC_000003.10:g.33013813G= NCBI36
NG_009005.1:g.104886C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.1762C= MANE Select ENSP00000306920.4:p.Leu588=
ENST00000307363.9:c.1762C= ENSP00000306920.4:p.Leu588=
ENST00000307377.12:c.1369C= ENSP00000305920.8:p.Leu457=
ENST00000399402.7:c.1672C= ENSP00000382333.2:p.Leu558=
NM_000404.2:c.1762C= NP_000395.2:p.Leu588=
NM_000404.3:c.1762C= NP_000395.2:p.Leu588=
NM_001079811.1:c.1672C= NP_001073279.1:p.Leu558=
NM_001079811.2:c.1672C= NP_001073279.1:p.Leu558=
NM_001135602.1:c.1369C= NP_001129074.1:p.Leu457=
NM_001135602.2:c.1369C= NP_001129074.1:p.Leu457=
NM_001317040.1:c.1906C= NP_001303969.1:p.Leu636=
NM_000404.4:c.1762C= MANE Select NP_000395.3:p.Leu588=
NM_001079811.3:c.1672C= NP_001073279.2:p.Leu558=
NM_001135602.3:c.1369C= NP_001129074.2:p.Leu457=
NM_001317040.2:c.1906C= NP_001303969.2:p.Leu636=
NM_001393580.1:c.1734+16739C= NP_001380509.1:n.1734+16739C=