Canonical Allele Identifier: CA247531

Gene: GLB1

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33051988T>G , CM000665.2:g.33051988T>G	GRCh38
NC_000003.11:g.33093480T>G , CM000665.1:g.33093480T>G	GRCh37
NC_000003.10:g.33068484T>G	NCBI36
NG_009005.1:g.50215A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.809A>C MANE Select	ENSP00000306920.4:p.Tyr270Ser
ENST00000307363.9:c.809A>C	ENSP00000306920.4:p.Tyr270Ser
ENST00000307377.12:c.416A>C	ENSP00000305920.8:p.Tyr139Ser
ENST00000399402.7:c.719A>C	ENSP00000382333.2:p.Tyr240Ser
ENST00000415454.1:c.332A>C	ENSP00000411813.1:p.Tyr111Ser
ENST00000438227.1:c.*301A>C	ENSP00000401250.1:n.*301A>C
ENST00000446732.5:c.*252A>C	ENSP00000407365.1:n.*252A>C
ENST00000482097.5:n.184A>C
ENST00000485698.5:n.212A>C
ENST00000498537.5:n.335A>C
NM_000404.2:c.809A>C	NP_000395.2:p.Tyr270Ser
NM_000404.3:c.809A>C	NP_000395.2:p.Tyr270Ser
NM_001079811.1:c.719A>C	NP_001073279.1:p.Tyr240Ser
NM_001079811.2:c.719A>C	NP_001073279.1:p.Tyr240Ser
NM_001135602.1:c.416A>C	NP_001129074.1:p.Tyr139Ser
NM_001135602.2:c.416A>C	NP_001129074.1:p.Tyr139Ser
NM_001317040.1:c.953A>C	NP_001303969.1:p.Tyr318Ser
NM_000404.4:c.809A>C MANE Select	NP_000395.3:p.Tyr270Ser
NM_001079811.3:c.719A>C	NP_001073279.2:p.Tyr240Ser
NM_001135602.3:c.416A>C	NP_001129074.2:p.Tyr139Ser
NM_001317040.2:c.953A>C	NP_001303969.2:p.Tyr318Ser
NM_001393580.1:c.809A>C	NP_001380509.1:p.Tyr270Ser