Canonical Allele Identifier: CA114640

Gene: GLB1

Linked Data

• ClinVar Variation Id: 930
• ClinVar RCV Id: RCV000000978 ; RCV001378633 ; RCV001810396 ; RCV002281684
• dbSNP Id: rs28934886
• gnomAD v2: 3-33058310-C-T
• gnomAD v3: 3-33016818-C-T
• gnomAD v4: 3-33016818-C-T
• COSMIC: COSM5444067 ; COSM5444068
• MyVariant Identifiers: chr3:g.33058310C>T (hg19) ; chr3:g.33016818C>T (hg38)
• PubMed: PMID:1907800

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33016818C>T , CM000665.2:g.33016818C>T	GRCh38
NC_000003.11:g.33058310C>T , CM000665.1:g.33058310C>T	GRCh37
NC_000003.10:g.33033314C>T	NCBI36
NG_009005.1:g.85385G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1370G>A MANE Select	ENSP00000306920.4:p.Arg457Gln
ENST00000307363.9:c.1370G>A	ENSP00000306920.4:p.Arg457Gln
ENST00000307377.12:c.977G>A	ENSP00000305920.8:p.Arg326Gln
ENST00000399402.7:c.1280G>A	ENSP00000382333.2:p.Arg427Gln
ENST00000461475.5:n.469G>A
ENST00000467571.5:n.407G>A
ENST00000497796.5:n.622G>A
NM_000404.2:c.1370G>A	NP_000395.2:p.Arg457Gln
NM_000404.3:c.1370G>A	NP_000395.2:p.Arg457Gln
NM_001079811.1:c.1280G>A	NP_001073279.1:p.Arg427Gln
NM_001079811.2:c.1280G>A	NP_001073279.1:p.Arg427Gln
NM_001135602.1:c.977G>A	NP_001129074.1:p.Arg326Gln
NM_001135602.2:c.977G>A	NP_001129074.1:p.Arg326Gln
NM_001317040.1:c.1514G>A	NP_001303969.1:p.Arg505Gln
NM_000404.4:c.1370G>A MANE Select	NP_000395.3:p.Arg457Gln
NM_001079811.3:c.1280G>A	NP_001073279.2:p.Arg427Gln
NM_001135602.3:c.977G>A	NP_001129074.2:p.Arg326Gln
NM_001317040.2:c.1514G>A	NP_001303969.2:p.Arg505Gln
NM_001393580.1:c.1370G>A	NP_001380509.1:p.Arg457Gln