Canonical Allele Identifier: CA377466830

Gene: GLUD1

Linked Data

• MyVariant Identifiers: chr10:g.88820453T>A (hg19) ; chr10:g.87060696T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87060696T>A , CM000672.2:g.87060696T>A	GRCh38
NC_000010.10:g.88820453T>A , CM000672.1:g.88820453T>A	GRCh37
NC_000010.9:g.88810433T>A	NCBI36
NG_013010.1:g.39324A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.2764A>T
ENST00000487058.2:n.490A>T
ENST00000681987.1:n.1027A>T
ENST00000681988.1:c.688A>T	ENSP00000507316.1:p.Lys230Ter
ENST00000682396.1:c.1180A>T	ENSP00000506764.1:n.1180A>T
ENST00000682507.1:c.688A>T	ENSP00000508098.1:p.Lys230Ter
ENST00000682622.1:c.1469A>T	ENSP00000506732.1:n.1469A>T
ENST00000682833.1:c.1024A>T
ENST00000683022.1:c.1210A>T
ENST00000683256.1:c.688A>T	ENSP00000507901.1:p.Lys230Ter
ENST00000683269.1:c.688A>T	ENSP00000508107.1:p.Lys230Ter
ENST00000683647.1:n.4523A>T
ENST00000683783.1:c.688A>T	ENSP00000507881.1:p.Lys230Ter
ENST00000683813.1:n.917A>T
ENST00000684032.1:c.1044A>T	ENSP00000506969.1:n.1044A>T
ENST00000684201.1:c.922-455A>T	ENSP00000507887.1:n.922-455A>T
ENST00000684338.1:c.1189A>T	ENSP00000507457.1:p.Lys397Ter
ENST00000684372.1:c.688A>T	ENSP00000508244.1:p.Lys230Ter
ENST00000684434.1:c.660A>T
ENST00000684546.1:c.688A>T	ENSP00000507729.1:p.Lys230Ter
ENST00000684690.1:n.970A>T
ENST00000684699.1:n.3322A>T
ENST00000277865.5:c.1189A>T MANE Select	ENSP00000277865.4:p.Lys397Ter
ENST00000277865.4:c.1189A>T	ENSP00000277865.4:p.Lys397Ter
ENST00000465164.1:n.268A>T
NM_005271.3:c.1189A>T	NP_005262.1:p.Lys397Ter
XM_011539668.1:c.688A>T	XP_011537970.1:p.Lys230Ter
XM_011539669.1:c.688A>T	XP_011537971.1:p.Lys230Ter
NM_001318900.1:c.790A>T	NP_001305829.1:p.Lys264Ter
NM_001318901.1:c.688A>T	NP_001305830.1:p.Lys230Ter
NM_001318902.1:c.688A>T	NP_001305831.1:p.Lys230Ter
NM_001318904.1:c.688A>T	NP_001305833.1:p.Lys230Ter
NM_001318905.1:c.688A>T	NP_001305834.1:p.Lys230Ter
NM_001318906.1:c.688A>T	NP_001305835.1:p.Lys230Ter
NM_005271.4:c.1189A>T	NP_005262.1:p.Lys397Ter
NM_005271.5:c.1189A>T MANE Select	NP_005262.1:p.Lys397Ter
NM_001318904.2:c.688A>T	NP_001305833.1:p.Lys230Ter
NM_001318905.2:c.688A>T	NP_001305834.1:p.Lys230Ter
NM_001318906.2:c.688A>T	NP_001305835.1:p.Lys230Ter