Canonical Allele Identifier: CA470669654

Gene: GLUD1

Linked Data

• dbSNP Id: rs1282940205
• gnomAD v2: 10-88820478-C-T
• gnomAD v4: 10-87060721-C-T
• MyVariant Identifiers: chr10:g.88820478C>T (hg19) ; chr10:g.87060721C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87060721C>T , CM000672.2:g.87060721C>T	GRCh38
NC_000010.10:g.88820478C>T , CM000672.1:g.88820478C>T	GRCh37
NC_000010.9:g.88810458C>T	NCBI36
NG_013010.1:g.39299G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.2739G>A
ENST00000487058.2:n.465G>A
ENST00000681987.1:n.1002G>A
ENST00000681988.1:c.663G>A	ENSP00000507316.1:p.Leu221=
ENST00000682396.1:c.1155G>A	ENSP00000506764.1:n.1155G>A
ENST00000682507.1:c.663G>A	ENSP00000508098.1:p.Leu221=
ENST00000682622.1:c.1444G>A	ENSP00000506732.1:n.1444G>A
ENST00000682833.1:c.999G>A
ENST00000683022.1:c.1185G>A
ENST00000683256.1:c.663G>A	ENSP00000507901.1:p.Leu221=
ENST00000683269.1:c.663G>A	ENSP00000508107.1:p.Leu221=
ENST00000683647.1:n.4498G>A
ENST00000683783.1:c.663G>A	ENSP00000507881.1:p.Leu221=
ENST00000683813.1:n.892G>A
ENST00000684032.1:c.1019G>A	ENSP00000506969.1:n.1019G>A
ENST00000684201.1:c.922-480G>A	ENSP00000507887.1:n.922-480G>A
ENST00000684338.1:c.1164G>A	ENSP00000507457.1:p.Leu388=
ENST00000684372.1:c.663G>A	ENSP00000508244.1:p.Leu221=
ENST00000684434.1:c.635G>A
ENST00000684546.1:c.663G>A	ENSP00000507729.1:p.Leu221=
ENST00000684690.1:n.945G>A
ENST00000684699.1:n.3297G>A
ENST00000277865.5:c.1164G>A MANE Select	ENSP00000277865.4:p.Leu388=
ENST00000277865.4:c.1164G>A	ENSP00000277865.4:p.Leu388=
ENST00000465164.1:n.243G>A
NM_005271.3:c.1164G>A	NP_005262.1:p.Leu388=
XM_011539668.1:c.663G>A	XP_011537970.1:p.Leu221=
XM_011539669.1:c.663G>A	XP_011537971.1:p.Leu221=
NM_001318900.1:c.765G>A	NP_001305829.1:p.Leu255=
NM_001318901.1:c.663G>A	NP_001305830.1:p.Leu221=
NM_001318902.1:c.663G>A	NP_001305831.1:p.Leu221=
NM_001318904.1:c.663G>A	NP_001305833.1:p.Leu221=
NM_001318905.1:c.663G>A	NP_001305834.1:p.Leu221=
NM_001318906.1:c.663G>A	NP_001305835.1:p.Leu221=
NM_005271.4:c.1164G>A	NP_005262.1:p.Leu388=
NM_005271.5:c.1164G>A MANE Select	NP_005262.1:p.Leu388=
NM_001318904.2:c.663G>A	NP_001305833.1:p.Leu221=
NM_001318905.2:c.663G>A	NP_001305834.1:p.Leu221=
NM_001318906.2:c.663G>A	NP_001305835.1:p.Leu221=