Canonical Allele Identifier: CA257429

Gene: GLUD1

Linked Data

• ClinVar Variation Id: 16127
• ClinVar RCV Id: RCV000017507
• dbSNP Id: rs121909736
• MyVariant Identifiers: chr10:g.88820778C>T (hg19) ; chr10:g.87061021C>T (hg38)
• PubMed: PMID:10636977

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87061021C>T , CM000672.2:g.87061021C>T	GRCh38
NC_000010.10:g.88820778C>T , CM000672.1:g.88820778C>T	GRCh37
NC_000010.9:g.88810758C>T	NCBI36
NG_013010.1:g.38999G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000474574.2:n.2528G>A
ENST00000487058.2:n.165G>A
ENST00000681987.1:n.791G>A
ENST00000681988.1:c.452G>A	ENSP00000507316.1:p.Arg151Lys
ENST00000682396.1:c.944G>A	ENSP00000506764.1:n.944G>A
ENST00000682507.1:c.452G>A	ENSP00000508098.1:p.Arg151Lys
ENST00000682622.1:c.1233G>A	ENSP00000506732.1:n.1233G>A
ENST00000682833.1:c.788G>A
ENST00000683022.1:c.974G>A
ENST00000683256.1:c.452G>A	ENSP00000507901.1:p.Arg151Lys
ENST00000683269.1:c.452G>A	ENSP00000508107.1:p.Arg151Lys
ENST00000683647.1:n.4287G>A
ENST00000683783.1:c.452G>A	ENSP00000507881.1:p.Arg151Lys
ENST00000683813.1:n.681G>A
ENST00000684032.1:c.808G>A	ENSP00000506969.1:n.808G>A
ENST00000684201.1:c.922-780G>A	ENSP00000507887.1:n.922-780G>A
ENST00000684338.1:c.953G>A	ENSP00000507457.1:p.Arg318Lys
ENST00000684372.1:c.452G>A	ENSP00000508244.1:p.Arg151Lys
ENST00000684392.1:n.1684G>A
ENST00000684434.1:c.424G>A
ENST00000684546.1:c.452G>A	ENSP00000507729.1:p.Arg151Lys
ENST00000684690.1:n.734G>A
ENST00000684699.1:n.3086G>A
ENST00000277865.5:c.953G>A MANE Select	ENSP00000277865.4:p.Arg318Lys
ENST00000277865.4:c.953G>A	ENSP00000277865.4:p.Arg318Lys
ENST00000465164.1:n.32G>A
ENST00000474574.1:n.326G>A
NM_005271.3:c.953G>A	NP_005262.1:p.Arg318Lys
XM_011539668.1:c.452G>A	XP_011537970.1:p.Arg151Lys
XM_011539669.1:c.452G>A	XP_011537971.1:p.Arg151Lys
NM_001318900.1:c.554G>A	NP_001305829.1:p.Arg185Lys
NM_001318901.1:c.452G>A	NP_001305830.1:p.Arg151Lys
NM_001318902.1:c.452G>A	NP_001305831.1:p.Arg151Lys
NM_001318904.1:c.452G>A	NP_001305833.1:p.Arg151Lys
NM_001318905.1:c.452G>A	NP_001305834.1:p.Arg151Lys
NM_001318906.1:c.452G>A	NP_001305835.1:p.Arg151Lys
NM_005271.4:c.953G>A	NP_005262.1:p.Arg318Lys
NM_005271.5:c.953G>A MANE Select	NP_005262.1:p.Arg318Lys
NM_001318904.2:c.452G>A	NP_001305833.1:p.Arg151Lys
NM_001318905.2:c.452G>A	NP_001305834.1:p.Arg151Lys
NM_001318906.2:c.452G>A	NP_001305835.1:p.Arg151Lys