Canonical Allele Identifier: CA2299465

Gene: GLB1

Linked Data

• ClinVar Variation Id: 2161217
• ClinVar RCV Id: RCV003078459
• dbSNP Id: rs756704717
• ExAC: 3:33063043 C / T
• gnomAD v2: 3-33063043-C-T
• gnomAD v3: 3-33021551-C-T
• gnomAD v4: 3-33021551-C-T
• MyVariant Identifiers: chr3:g.33063043C>T (hg19) ; chr3:g.33021551C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021551C>T , CM000665.2:g.33021551C>T	GRCh38
NC_000003.11:g.33063043C>T , CM000665.1:g.33063043C>T	GRCh37
NC_000003.10:g.33038047C>T	NCBI36
NG_009005.1:g.80652G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1233+15G>A MANE Select	ENSP00000306920.4:n.1233+15G>A
ENST00000307363.9:c.1233+15G>A	ENSP00000306920.4:n.1233+15G>A
ENST00000307377.12:c.840+15G>A	ENSP00000305920.8:n.840+15G>A
ENST00000399402.7:c.1143+15G>A	ENSP00000382333.2:n.1143+15G>A
ENST00000461475.5:n.332+15G>A
ENST00000467571.5:n.270+15G>A
ENST00000473477.1:n.280G>A
ENST00000497796.5:n.485+15G>A
NM_000404.2:c.1233+15G>A	NP_000395.2:n.1233+15G>A
NM_000404.3:c.1233+15G>A	NP_000395.2:n.1233+15G>A
NM_001079811.1:c.1143+15G>A	NP_001073279.1:n.1143+15G>A
NM_001079811.2:c.1143+15G>A	NP_001073279.1:n.1143+15G>A
NM_001135602.1:c.840+15G>A	NP_001129074.1:n.840+15G>A
NM_001135602.2:c.840+15G>A	NP_001129074.1:n.840+15G>A
NM_001317040.1:c.1377+15G>A	NP_001303969.1:n.1377+15G>A
XR_001740634.1:n.1543-637C>T
NM_000404.4:c.1233+15G>A MANE Select	NP_000395.3:n.1233+15G>A
NM_001079811.3:c.1143+15G>A	NP_001073279.2:n.1143+15G>A
NM_001135602.3:c.840+15G>A	NP_001129074.2:n.840+15G>A
NM_001317040.2:c.1377+15G>A	NP_001303969.2:n.1377+15G>A
NM_001393580.1:c.1233+15G>A	NP_001380509.1:n.1233+15G>A