Canonical Allele Identifier: CA351999254

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33046148T>C , CM000665.2:g.33046148T>C	GRCh38
NC_000003.11:g.33087640T>C , CM000665.1:g.33087640T>C	GRCh37
NC_000003.10:g.33062644T>C	NCBI36
NG_009005.1:g.56055A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.1040A>G MANE Select	NP_000395.3:p.Tyr347Cys
ENST00000307363.10:c.1040A>G MANE Select	ENSP00000306920.4:p.Tyr347Cys
NM_000404.2:c.1040A>G	NP_000395.2:p.Tyr347Cys
NM_000404.3:c.1040A>G	NP_000395.2:p.Tyr347Cys
NM_001079811.1:c.950A>G	NP_001073279.1:p.Tyr317Cys
NM_001079811.2:c.950A>G	NP_001073279.1:p.Tyr317Cys
NM_001079811.3:c.950A>G	NP_001073279.2:p.Tyr317Cys
NM_001135602.1:c.647A>G	NP_001129074.1:p.Tyr216Cys
NM_001135602.2:c.647A>G	NP_001129074.1:p.Tyr216Cys
NM_001135602.3:c.647A>G	NP_001129074.2:p.Tyr216Cys
NM_001317040.1:c.1184A>G	NP_001303969.1:p.Tyr395Cys
NM_001317040.2:c.1184A>G	NP_001303969.2:p.Tyr395Cys
NM_001393580.1:c.1040A>G	NP_001380509.1:p.Tyr347Cys
ENST00000307363.9:c.1040A>G	ENSP00000306920.4:p.Tyr347Cys
ENST00000307377.12:c.647A>G	ENSP00000305920.8:p.Tyr216Cys
ENST00000399402.7:c.950A>G	ENSP00000382333.2:p.Tyr317Cys
ENST00000482097.5:n.415A>G
ENST00000485698.5:n.443A>G
ENST00000490658.2:n.45A>G
ENST00000498537.5:n.566A>G