Canonical Allele Identifier: CA352000521

Gene: GLB1

Linked Data

• dbSNP Id: rs1211339297
• gnomAD v2: 3-33038711-T-G
• gnomAD v4: 3-32997219-T-G
• MyVariant Identifiers: chr3:g.33038711T>G (hg19) ; chr3:g.32997219T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997219T>G , CM000665.2:g.32997219T>G	GRCh38
NC_000003.11:g.33038711T>G , CM000665.1:g.33038711T>G	GRCh37
NC_000003.10:g.33013715T>G	NCBI36
NG_009005.1:g.104984A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.1860A>C MANE Select	ENSP00000306920.4:p.Glu620Asp
ENST00000307363.9:c.1860A>C	ENSP00000306920.4:p.Glu620Asp
ENST00000307377.12:c.1467A>C	ENSP00000305920.8:p.Glu489Asp
ENST00000399402.7:c.1770A>C	ENSP00000382333.2:p.Glu590Asp
NM_000404.2:c.1860A>C	NP_000395.2:p.Glu620Asp
NM_000404.3:c.1860A>C	NP_000395.2:p.Glu620Asp
NM_001079811.1:c.1770A>C	NP_001073279.1:p.Glu590Asp
NM_001079811.2:c.1770A>C	NP_001073279.1:p.Glu590Asp
NM_001135602.1:c.1467A>C	NP_001129074.1:p.Glu489Asp
NM_001135602.2:c.1467A>C	NP_001129074.1:p.Glu489Asp
NM_001317040.1:c.2004A>C	NP_001303969.1:p.Glu668Asp
NM_000404.4:c.1860A>C MANE Select	NP_000395.3:p.Glu620Asp
NM_001079811.3:c.1770A>C	NP_001073279.2:p.Glu590Asp
NM_001135602.3:c.1467A>C	NP_001129074.2:p.Glu489Asp
NM_001317040.2:c.2004A>C	NP_001303969.2:p.Glu668Asp
NM_001393580.1:c.1734+16837A>C	NP_001380509.1:n.1734+16837A>C