Canonical Allele Identifier: CA115753

Gene: GBE1

Linked Data

• ClinVar Variation Id: 2782
• ClinVar RCV Id: RCV000002915 ; RCV000020162 ; RCV000150107 ; RCV001043400
• dbSNP Id: rs80338673
• ExAC: 3:81627123 C / T
• gnomAD v2: 3-81627123-C-T
• gnomAD v4: 3-81577972-C-T
• COSMIC: COSM5514940 ; COSM5514941
• MyVariant Identifiers: chr3:g.81627123C>T (hg19) ; chr3:g.81577972C>T (hg38)
• PubMed: PMID:10545044 ; PMID:10762170 ; PMID:15452297 ; PMID:20301758

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81577972C>T , CM000665.2:g.81577972C>T	GRCh38
NC_000003.11:g.81627123C>T , CM000665.1:g.81627123C>T	GRCh37
NC_000003.10:g.81709813C>T	NCBI36
NG_011810.1:g.188829G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1571G>A MANE Select	ENSP00000410833.2:p.Arg524Gln
ENST00000429644.6:c.1571G>A	ENSP00000410833.2:p.Arg524Gln
ENST00000489715.1:c.1448G>A	ENSP00000419638.1:p.Arg483Gln
NM_000158.3:c.1571G>A	NP_000149.3:p.Arg524Gln
NM_000158.4:c.1571G>A MANE Select	NP_000149.4:p.Arg524Gln