Canonical Allele Identifier: CA2299601

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33053498C>G , CM000665.2:g.33053498C>G	GRCh38
NC_000003.11:g.33094990C>G , CM000665.1:g.33094990C>G	GRCh37
NC_000003.10:g.33069994C>G	NCBI36
NG_009005.1:g.48705G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.785G>C MANE Select	NP_000395.3:p.Gly262Ala
ENST00000307363.10:c.785G>C MANE Select	ENSP00000306920.4:p.Gly262Ala
NM_000404.2:c.785G>C	NP_000395.2:p.Gly262Ala
NM_000404.3:c.785G>C	NP_000395.2:p.Gly262Ala
NM_001079811.1:c.695G>C	NP_001073279.1:p.Gly232Ala
NM_001079811.2:c.695G>C	NP_001073279.1:p.Gly232Ala
NM_001079811.3:c.695G>C	NP_001073279.2:p.Gly232Ala
NM_001135602.1:c.392G>C	NP_001129074.1:p.Gly131Ala
NM_001135602.2:c.392G>C	NP_001129074.1:p.Gly131Ala
NM_001135602.3:c.392G>C	NP_001129074.2:p.Gly131Ala
NM_001317040.1:c.929G>C	NP_001303969.1:p.Gly310Ala
NM_001317040.2:c.929G>C	NP_001303969.2:p.Gly310Ala
NM_001393580.1:c.785G>C	NP_001380509.1:p.Gly262Ala
ENST00000307363.9:c.785G>C	ENSP00000306920.4:p.Gly262Ala
ENST00000307377.12:c.392G>C	ENSP00000305920.8:p.Gly131Ala
ENST00000399402.7:c.695G>C	ENSP00000382333.2:p.Gly232Ala
ENST00000415454.1:c.308G>C	ENSP00000411813.1:p.Gly103Ala
ENST00000438227.1:c.*277G>C	ENSP00000401250.1:n.*277G>C
ENST00000446732.5:c.*228G>C	ENSP00000407365.1:n.*228G>C
ENST00000482097.5:n.160G>C
ENST00000485698.5:n.188G>C
ENST00000498537.5:n.184G>C