Canonical Allele Identifier: CA2299254

Gene: GLB1

Linked Data

• ClinVar Variation Id: 733159
• ClinVar RCV Id: RCV000908403 ; RCV001150009 ; RCV001150010 ; RCV001563857 ; RCV001563856 ; RCV001563858 ; RCV003438575
• dbSNP Id: rs756403702
• ExAC: 3:33038555 T / C
• gnomAD v2: 3-33038555-T-C
• gnomAD v3: 3-32997063-T-C
• gnomAD v4: 3-32997063-T-C
• MyVariant Identifiers: chr3:g.33038555T>C (hg19) ; chr3:g.32997063T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997063T>C , CM000665.2:g.32997063T>C	GRCh38
NC_000003.11:g.33038555T>C , CM000665.1:g.33038555T>C	GRCh37
NC_000003.10:g.33013559T>C	NCBI36
NG_009005.1:g.105140A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.2016A>G MANE Select	ENSP00000306920.4:p.Ser672=
ENST00000307363.9:c.2016A>G	ENSP00000306920.4:p.Ser672=
ENST00000307377.12:c.1623A>G	ENSP00000305920.8:p.Ser541=
ENST00000399402.7:c.1926A>G	ENSP00000382333.2:p.Ser642=
NM_000404.2:c.2016A>G	NP_000395.2:p.Ser672=
NM_000404.3:c.2016A>G	NP_000395.2:p.Ser672=
NM_001079811.1:c.1926A>G	NP_001073279.1:p.Ser642=
NM_001079811.2:c.1926A>G	NP_001073279.1:p.Ser642=
NM_001135602.1:c.1623A>G	NP_001129074.1:p.Ser541=
NM_001135602.2:c.1623A>G	NP_001129074.1:p.Ser541=
NM_001317040.1:c.2160A>G	NP_001303969.1:p.Ser720=
NM_000404.4:c.2016A>G MANE Select	NP_000395.3:p.Ser672=
NM_001079811.3:c.1926A>G	NP_001073279.2:p.Ser642=
NM_001135602.3:c.1623A>G	NP_001129074.2:p.Ser541=
NM_001317040.2:c.2160A>G	NP_001303969.2:p.Ser720=
NM_001393580.1:c.1734+16993A>G	NP_001380509.1:n.1734+16993A>G