Canonical Allele Identifier: CA432953507

Gene: GLB1

Linked Data

• ClinVar Variation Id: 2941769
• ClinVar RCV Id: RCV003802791
• dbSNP Id: rs1438952502
• gnomAD v2: 3-33063067-C-T
• MyVariant Identifiers: chr3:g.33063067C>T (hg19) ; chr3:g.33021575C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33021575C>T , CM000665.2:g.33021575C>T	GRCh38
NC_000003.11:g.33063067C>T , CM000665.1:g.33063067C>T	GRCh37
NC_000003.10:g.33038071C>T	NCBI36
NG_009005.1:g.80628G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1224G>A MANE Select	ENSP00000306920.4:p.Gln408=
ENST00000307363.9:c.1224G>A	ENSP00000306920.4:p.Gln408=
ENST00000307377.12:c.831G>A	ENSP00000305920.8:p.Gln277=
ENST00000399402.7:c.1134G>A	ENSP00000382333.2:p.Gln378=
ENST00000461475.5:n.323G>A
ENST00000467571.5:n.261G>A
ENST00000473477.1:n.256G>A
ENST00000497796.5:n.476G>A
NM_000404.2:c.1224G>A	NP_000395.2:p.Gln408=
NM_000404.3:c.1224G>A	NP_000395.2:p.Gln408=
NM_001079811.1:c.1134G>A	NP_001073279.1:p.Gln378=
NM_001079811.2:c.1134G>A	NP_001073279.1:p.Gln378=
NM_001135602.1:c.831G>A	NP_001129074.1:p.Gln277=
NM_001135602.2:c.831G>A	NP_001129074.1:p.Gln277=
NM_001317040.1:c.1368G>A	NP_001303969.1:p.Gln456=
XR_001740634.1:n.1543-613C>T
NM_000404.4:c.1224G>A MANE Select	NP_000395.3:p.Gln408=
NM_001079811.3:c.1134G>A	NP_001073279.2:p.Gln378=
NM_001135602.3:c.831G>A	NP_001129074.2:p.Gln277=
NM_001317040.2:c.1368G>A	NP_001303969.2:p.Gln456=
NM_001393580.1:c.1224G>A	NP_001380509.1:p.Gln408=