Canonical Allele Identifier: CA377466878

Gene: GLUD1

Linked Data

• MyVariant Identifiers: chr10:g.88820476G>C (hg19) ; chr10:g.87060719G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87060719G>C , CM000672.2:g.87060719G>C	GRCh38
NC_000010.10:g.88820476G>C , CM000672.1:g.88820476G>C	GRCh37
NC_000010.9:g.88810456G>C	NCBI36
NG_013010.1:g.39301C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.2741C>G
ENST00000487058.2:n.467C>G
ENST00000681987.1:n.1004C>G
ENST00000681988.1:c.665C>G	ENSP00000507316.1:p.Thr222Ser
ENST00000682396.1:c.1157C>G	ENSP00000506764.1:n.1157C>G
ENST00000682507.1:c.665C>G	ENSP00000508098.1:p.Thr222Ser
ENST00000682622.1:c.1446C>G	ENSP00000506732.1:n.1446C>G
ENST00000682833.1:c.1001C>G
ENST00000683022.1:c.1187C>G
ENST00000683256.1:c.665C>G	ENSP00000507901.1:p.Thr222Ser
ENST00000683269.1:c.665C>G	ENSP00000508107.1:p.Thr222Ser
ENST00000683647.1:n.4500C>G
ENST00000683783.1:c.665C>G	ENSP00000507881.1:p.Thr222Ser
ENST00000683813.1:n.894C>G
ENST00000684032.1:c.1021C>G	ENSP00000506969.1:n.1021C>G
ENST00000684201.1:c.922-478C>G	ENSP00000507887.1:n.922-478C>G
ENST00000684338.1:c.1166C>G	ENSP00000507457.1:p.Thr389Ser
ENST00000684372.1:c.665C>G	ENSP00000508244.1:p.Thr222Ser
ENST00000684434.1:c.637C>G
ENST00000684546.1:c.665C>G	ENSP00000507729.1:p.Thr222Ser
ENST00000684690.1:n.947C>G
ENST00000684699.1:n.3299C>G
ENST00000277865.5:c.1166C>G MANE Select	ENSP00000277865.4:p.Thr389Ser
ENST00000277865.4:c.1166C>G	ENSP00000277865.4:p.Thr389Ser
ENST00000465164.1:n.245C>G
NM_005271.3:c.1166C>G	NP_005262.1:p.Thr389Ser
XM_011539668.1:c.665C>G	XP_011537970.1:p.Thr222Ser
XM_011539669.1:c.665C>G	XP_011537971.1:p.Thr222Ser
NM_001318900.1:c.767C>G	NP_001305829.1:p.Thr256Ser
NM_001318901.1:c.665C>G	NP_001305830.1:p.Thr222Ser
NM_001318902.1:c.665C>G	NP_001305831.1:p.Thr222Ser
NM_001318904.1:c.665C>G	NP_001305833.1:p.Thr222Ser
NM_001318905.1:c.665C>G	NP_001305834.1:p.Thr222Ser
NM_001318906.1:c.665C>G	NP_001305835.1:p.Thr222Ser
NM_005271.4:c.1166C>G	NP_005262.1:p.Thr389Ser
NM_005271.5:c.1166C>G MANE Select	NP_005262.1:p.Thr389Ser
NM_001318904.2:c.665C>G	NP_001305833.1:p.Thr222Ser
NM_001318905.2:c.665C>G	NP_001305834.1:p.Thr222Ser
NM_001318906.2:c.665C>G	NP_001305835.1:p.Thr222Ser