Canonical Allele Identifier: CA2299458

Gene: GLB1

Linked Data

• ClinVar Variation Id: 1198799
• ClinVar RCV Id: RCV001563078
• dbSNP Id: rs192752523
• ExAC: 3:33063022 T / C
• gnomAD v2: 3-33063022-T-C
• gnomAD v3: 3-33021530-T-C
• gnomAD v4: 3-33021530-T-C
• MyVariant Identifiers: chr3:g.33063022T>C (hg19) ; chr3:g.33021530T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021530T>C , CM000665.2:g.33021530T>C	GRCh38
NC_000003.11:g.33063022T>C , CM000665.1:g.33063022T>C	GRCh37
NC_000003.10:g.33038026T>C	NCBI36
NG_009005.1:g.80673A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1233+36A>G MANE Select	ENSP00000306920.4:n.1233+36A>G
ENST00000307363.9:c.1233+36A>G	ENSP00000306920.4:n.1233+36A>G
ENST00000307377.12:c.840+36A>G	ENSP00000305920.8:n.840+36A>G
ENST00000399402.7:c.1143+36A>G	ENSP00000382333.2:n.1143+36A>G
ENST00000461475.5:n.332+36A>G
ENST00000467571.5:n.270+36A>G
ENST00000473477.1:n.301A>G
ENST00000497796.5:n.485+36A>G
NM_000404.2:c.1233+36A>G	NP_000395.2:n.1233+36A>G
NM_000404.3:c.1233+36A>G	NP_000395.2:n.1233+36A>G
NM_001079811.1:c.1143+36A>G	NP_001073279.1:n.1143+36A>G
NM_001079811.2:c.1143+36A>G	NP_001073279.1:n.1143+36A>G
NM_001135602.1:c.840+36A>G	NP_001129074.1:n.840+36A>G
NM_001135602.2:c.840+36A>G	NP_001129074.1:n.840+36A>G
NM_001317040.1:c.1377+36A>G	NP_001303969.1:n.1377+36A>G
XR_001740634.1:n.1543-658T>C
NM_000404.4:c.1233+36A>G MANE Select	NP_000395.3:n.1233+36A>G
NM_001079811.3:c.1143+36A>G	NP_001073279.2:n.1143+36A>G
NM_001135602.3:c.840+36A>G	NP_001129074.2:n.840+36A>G
NM_001317040.2:c.1377+36A>G	NP_001303969.2:n.1377+36A>G
NM_001393580.1:c.1233+36A>G	NP_001380509.1:n.1233+36A>G