Canonical Allele Identifier: CA2664924294

Gene: GLB1

Linked Data

• ClinVar Variation Id: 2953718
• ClinVar RCV Id: RCV003812941
• gnomAD v4: 3-33021553-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021553T>G , CM000665.2:g.33021553T>G	GRCh38
NC_000003.11:g.33063045T>G , CM000665.1:g.33063045T>G	GRCh37
NC_000003.10:g.33038049T>G	NCBI36
NG_009005.1:g.80650A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1233+13A>C MANE Select	ENSP00000306920.4:n.1233+13A>C
ENST00000307363.9:c.1233+13A>C	ENSP00000306920.4:n.1233+13A>C
ENST00000307377.12:c.840+13A>C	ENSP00000305920.8:n.840+13A>C
ENST00000399402.7:c.1143+13A>C	ENSP00000382333.2:n.1143+13A>C
ENST00000461475.5:n.332+13A>C
ENST00000467571.5:n.270+13A>C
ENST00000473477.1:n.278A>C
ENST00000497796.5:n.485+13A>C
NM_000404.2:c.1233+13A>C	NP_000395.2:n.1233+13A>C
NM_000404.3:c.1233+13A>C	NP_000395.2:n.1233+13A>C
NM_001079811.1:c.1143+13A>C	NP_001073279.1:n.1143+13A>C
NM_001079811.2:c.1143+13A>C	NP_001073279.1:n.1143+13A>C
NM_001135602.1:c.840+13A>C	NP_001129074.1:n.840+13A>C
NM_001135602.2:c.840+13A>C	NP_001129074.1:n.840+13A>C
NM_001317040.1:c.1377+13A>C	NP_001303969.1:n.1377+13A>C
XR_001740634.1:n.1543-635T>G
NM_000404.4:c.1233+13A>C MANE Select	NP_000395.3:n.1233+13A>C
NM_001079811.3:c.1143+13A>C	NP_001073279.2:n.1143+13A>C
NM_001135602.3:c.840+13A>C	NP_001129074.2:n.840+13A>C
NM_001317040.2:c.1377+13A>C	NP_001303969.2:n.1377+13A>C
NM_001393580.1:c.1233+13A>C	NP_001380509.1:n.1233+13A>C