Canonical Allele Identifier: CA114662

Gene: GLB1

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021576T>G , CM000665.2:g.33021576T>G	GRCh38
NC_000003.11:g.33063068T>G , CM000665.1:g.33063068T>G	GRCh37
NC_000003.10:g.33038072T>G	NCBI36
NG_009005.1:g.80627A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1223A>C MANE Select	ENSP00000306920.4:p.Gln408Pro
ENST00000307363.9:c.1223A>C	ENSP00000306920.4:p.Gln408Pro
ENST00000307377.12:c.830A>C	ENSP00000305920.8:p.Gln277Pro
ENST00000399402.7:c.1133A>C	ENSP00000382333.2:p.Gln378Pro
ENST00000461475.5:n.322A>C
ENST00000467571.5:n.260A>C
ENST00000473477.1:n.255A>C
ENST00000497796.5:n.475A>C
NM_000404.2:c.1223A>C	NP_000395.2:p.Gln408Pro
NM_000404.3:c.1223A>C	NP_000395.2:p.Gln408Pro
NM_001079811.1:c.1133A>C	NP_001073279.1:p.Gln378Pro
NM_001079811.2:c.1133A>C	NP_001073279.1:p.Gln378Pro
NM_001135602.1:c.830A>C	NP_001129074.1:p.Gln277Pro
NM_001135602.2:c.830A>C	NP_001129074.1:p.Gln277Pro
NM_001317040.1:c.1367A>C	NP_001303969.1:p.Gln456Pro
XR_001740634.1:n.1543-612T>G
NM_000404.4:c.1223A>C MANE Select	NP_000395.3:p.Gln408Pro
NM_001079811.3:c.1133A>C	NP_001073279.2:p.Gln378Pro
NM_001135602.3:c.830A>C	NP_001129074.2:p.Gln277Pro
NM_001317040.2:c.1367A>C	NP_001303969.2:p.Gln456Pro
NM_001393580.1:c.1223A>C	NP_001380509.1:p.Gln408Pro