Canonical Allele Identifier: CA2299437

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33018519A>C , CM000665.2:g.33018519A>C	GRCh38
NC_000003.11:g.33060011A>C , CM000665.1:g.33060011A>C	GRCh37
NC_000003.10:g.33035015A>C	NCBI36
NG_009005.1:g.83684T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.1276T>G MANE Select	NP_000395.3:p.Cys426Gly
ENST00000307363.10:c.1276T>G MANE Select	ENSP00000306920.4:p.Cys426Gly
NM_000404.2:c.1276T>G	NP_000395.2:p.Cys426Gly
NM_000404.3:c.1276T>G	NP_000395.2:p.Cys426Gly
NM_001079811.1:c.1186T>G	NP_001073279.1:p.Cys396Gly
NM_001079811.2:c.1186T>G	NP_001073279.1:p.Cys396Gly
NM_001079811.3:c.1186T>G	NP_001073279.2:p.Cys396Gly
NM_001135602.1:c.883T>G	NP_001129074.1:p.Cys295Gly
NM_001135602.2:c.883T>G	NP_001129074.1:p.Cys295Gly
NM_001135602.3:c.883T>G	NP_001129074.2:p.Cys295Gly
NM_001317040.1:c.1420T>G	NP_001303969.1:p.Cys474Gly
NM_001317040.2:c.1420T>G	NP_001303969.2:p.Cys474Gly
NM_001393580.1:c.1276T>G	NP_001380509.1:p.Cys426Gly
ENST00000307363.9:c.1276T>G	ENSP00000306920.4:p.Cys426Gly
ENST00000307377.12:c.883T>G	ENSP00000305920.8:p.Cys295Gly
ENST00000399402.7:c.1186T>G	ENSP00000382333.2:p.Cys396Gly
ENST00000461475.5:n.375T>G
ENST00000467571.5:n.313T>G
ENST00000497796.5:n.528T>G