Canonical Allele Identifier: CA377464658

Gene: GLUD1

Linked Data

• MyVariant Identifiers: chr10:g.88813148T>A (hg19) ; chr10:g.87053391T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87053391T>A , CM000672.2:g.87053391T>A	GRCh38
NC_000010.10:g.88813148T>A , CM000672.1:g.88813148T>A	GRCh37
NC_000010.9:g.88803128T>A	NCBI36
NG_013010.1:g.46629A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000474574.2:n.3083A>T
ENST00000487058.2:n.1255A>T
ENST00000681987.1:n.1346A>T
ENST00000681988.1:c.1007A>T	ENSP00000507316.1:p.Lys336Ile
ENST00000682396.1:c.1499A>T	ENSP00000506764.1:n.1499A>T
ENST00000682507.1:c.1007A>T	ENSP00000508098.1:p.Lys336Ile
ENST00000682622.1:c.1788A>T	ENSP00000506732.1:n.1788A>T
ENST00000682833.1:c.1343A>T
ENST00000683022.1:c.1529A>T
ENST00000683256.1:c.1007A>T	ENSP00000507901.1:p.Lys336Ile
ENST00000683269.1:c.1007A>T	ENSP00000508107.1:p.Lys336Ile
ENST00000683647.1:n.4842A>T
ENST00000683649.1:n.358A>T
ENST00000683783.1:c.1007A>T	ENSP00000507881.1:p.Lys336Ile
ENST00000683813.1:n.1236A>T
ENST00000684032.1:c.1363A>T	ENSP00000506969.1:n.1363A>T
ENST00000684201.1:c.1232A>T	ENSP00000507887.1:p.Lys411Ile
ENST00000684338.1:c.1508A>T	ENSP00000507457.1:p.Lys503Ile
ENST00000684372.1:c.1007A>T	ENSP00000508244.1:p.Lys336Ile
ENST00000684434.1:c.979A>T
ENST00000684546.1:c.1007A>T	ENSP00000507729.1:p.Lys336Ile
ENST00000684665.1:n.472A>T
ENST00000684690.1:n.1735A>T
ENST00000684699.1:n.4087A>T
ENST00000277865.5:c.1508A>T MANE Select	ENSP00000277865.4:p.Lys503Ile
ENST00000277865.4:c.1508A>T	ENSP00000277865.4:p.Lys503Ile
NM_005271.3:c.1508A>T	NP_005262.1:p.Lys503Ile
XM_011539668.1:c.1007A>T	XP_011537970.1:p.Lys336Ile
XM_011539669.1:c.1007A>T	XP_011537971.1:p.Lys336Ile
NM_001318900.1:c.1109A>T	NP_001305829.1:p.Lys370Ile
NM_001318901.1:c.1007A>T	NP_001305830.1:p.Lys336Ile
NM_001318902.1:c.1007A>T	NP_001305831.1:p.Lys336Ile
NM_001318904.1:c.1007A>T	NP_001305833.1:p.Lys336Ile
NM_001318905.1:c.1007A>T	NP_001305834.1:p.Lys336Ile
NM_001318906.1:c.1007A>T	NP_001305835.1:p.Lys336Ile
NM_005271.4:c.1508A>T	NP_005262.1:p.Lys503Ile
NM_005271.5:c.1508A>T MANE Select	NP_005262.1:p.Lys503Ile
NM_001318904.2:c.1007A>T	NP_001305833.1:p.Lys336Ile
NM_001318905.2:c.1007A>T	NP_001305834.1:p.Lys336Ile
NM_001318906.2:c.1007A>T	NP_001305835.1:p.Lys336Ile