Canonical Allele Identifier: CA152977

Gene: GLB1

Linked Data

• ClinVar Variation Id: 129154
• ClinVar RCV Id: RCV000117143 ; RCV000338369 ; RCV000372110 ; RCV000675685 ; RCV001522631
• dbSNP Id: rs35289681
• ExAC: 3:33110383 G / A
• gnomAD v2: 3-33110383-G-A
• gnomAD v3: 3-33068891-G-A
• gnomAD v4: 3-33068891-G-A
• MyVariant Identifiers: chr3:g.33110383G>A (hg19) ; chr3:g.33068891G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33068891G>A , CM000665.2:g.33068891G>A	GRCh38
NC_000003.11:g.33110383G>A , CM000665.1:g.33110383G>A	GRCh37
NC_000003.10:g.33085387G>A	NCBI36
NG_009005.1:g.33312C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.325C>T MANE Select	ENSP00000306920.4:p.Arg109Trp
ENST00000307363.9:c.325C>T	ENSP00000306920.4:p.Arg109Trp
ENST00000307377.12:c.246-3334C>T	ENSP00000305920.8:n.246-3334C>T
ENST00000399402.7:c.235C>T	ENSP00000382333.2:p.Arg79Trp
ENST00000415454.1:c.76-10622C>T	ENSP00000411813.1:n.76-10622C>T
ENST00000438227.1:c.76-3334C>T	ENSP00000401250.1:n.76-3334C>T
ENST00000440656.1:c.-69C>T	ENSP00000411769.1:n.-69C>T
ENST00000446732.5:c.156-3334C>T	ENSP00000407365.1:n.156-3334C>T
ENST00000450835.1:c.235C>T	ENSP00000403264.1:p.Arg79Trp
ENST00000464355.1:n.283C>T
ENST00000482097.5:n.109-15342C>T
ENST00000485698.5:n.137-15342C>T
ENST00000498537.5:n.133-15342C>T
NM_000404.2:c.325C>T	NP_000395.2:p.Arg109Trp
NM_000404.3:c.325C>T	NP_000395.2:p.Arg109Trp
NM_001079811.1:c.235C>T	NP_001073279.1:p.Arg79Trp
NM_001079811.2:c.235C>T	NP_001073279.1:p.Arg79Trp
NM_001135602.1:c.246-3334C>T	NP_001129074.1:n.246-3334C>T
NM_001135602.2:c.246-3334C>T	NP_001129074.1:n.246-3334C>T
NM_001317040.1:c.469C>T	NP_001303969.1:p.Arg157Trp
NM_000404.4:c.325C>T MANE Select	NP_000395.3:p.Arg109Trp
NM_001079811.3:c.235C>T	NP_001073279.2:p.Arg79Trp
NM_001135602.3:c.246-3334C>T	NP_001129074.2:n.246-3334C>T
NM_001317040.2:c.469C>T	NP_001303969.2:p.Arg157Trp
NM_001393580.1:c.325C>T	NP_001380509.1:p.Arg109Trp