Canonical Allele Identifier: CA2299736

Gene: GLB1

Linked Data

• ClinVar Variation Id: 555030
• ClinVar RCV Id: RCV000670769 ; RCV002531261
• dbSNP Id: rs753965226
• ExAC: 3:33110373 T / G
• gnomAD v2: 3-33110373-T-G
• gnomAD v3: 3-33068881-T-G
• gnomAD v4: 3-33068881-T-G
• MyVariant Identifiers: chr3:g.33110373T>G (hg19) ; chr3:g.33068881T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33068881T>G , CM000665.2:g.33068881T>G	GRCh38
NC_000003.11:g.33110373T>G , CM000665.1:g.33110373T>G	GRCh37
NC_000003.10:g.33085377T>G	NCBI36
NG_009005.1:g.33322A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.335A>C MANE Select	ENSP00000306920.4:p.His112Pro
ENST00000307363.9:c.335A>C	ENSP00000306920.4:p.His112Pro
ENST00000307377.12:c.246-3324A>C	ENSP00000305920.8:n.246-3324A>C
ENST00000399402.7:c.245A>C	ENSP00000382333.2:p.His82Pro
ENST00000415454.1:c.76-10612A>C	ENSP00000411813.1:n.76-10612A>C
ENST00000438227.1:c.76-3324A>C	ENSP00000401250.1:n.76-3324A>C
ENST00000440656.1:c.-59A>C	ENSP00000411769.1:n.-59A>C
ENST00000446732.5:c.156-3324A>C	ENSP00000407365.1:n.156-3324A>C
ENST00000450835.1:c.245A>C	ENSP00000403264.1:p.His82Pro
ENST00000464355.1:n.293A>C
ENST00000482097.5:n.109-15332A>C
ENST00000485698.5:n.137-15332A>C
ENST00000498537.5:n.133-15332A>C
NM_000404.2:c.335A>C	NP_000395.2:p.His112Pro
NM_000404.3:c.335A>C	NP_000395.2:p.His112Pro
NM_001079811.1:c.245A>C	NP_001073279.1:p.His82Pro
NM_001079811.2:c.245A>C	NP_001073279.1:p.His82Pro
NM_001135602.1:c.246-3324A>C	NP_001129074.1:n.246-3324A>C
NM_001135602.2:c.246-3324A>C	NP_001129074.1:n.246-3324A>C
NM_001317040.1:c.479A>C	NP_001303969.1:p.His160Pro
NM_000404.4:c.335A>C MANE Select	NP_000395.3:p.His112Pro
NM_001079811.3:c.245A>C	NP_001073279.2:p.His82Pro
NM_001135602.3:c.246-3324A>C	NP_001129074.2:n.246-3324A>C
NM_001317040.2:c.479A>C	NP_001303969.2:p.His160Pro
NM_001393580.1:c.335A>C	NP_001380509.1:p.His112Pro