Canonical Allele Identifier: CA377464663

Gene: GLUD1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000474574.2:n.3083A>C
ENST00000487058.2:n.1255A>C
ENST00000681987.1:n.1346A>C
ENST00000681988.1:c.1007A>C	ENSP00000507316.1:p.Lys336Thr
ENST00000682396.1:c.1499A>C	ENSP00000506764.1:n.1499A>C
ENST00000682507.1:c.1007A>C	ENSP00000508098.1:p.Lys336Thr
ENST00000682622.1:c.1788A>C	ENSP00000506732.1:n.1788A>C
ENST00000682833.1:c.1343A>C
ENST00000683022.1:c.1529A>C
ENST00000683256.1:c.1007A>C	ENSP00000507901.1:p.Lys336Thr
ENST00000683269.1:c.1007A>C	ENSP00000508107.1:p.Lys336Thr
ENST00000683647.1:n.4842A>C
ENST00000683649.1:n.358A>C
ENST00000683783.1:c.1007A>C	ENSP00000507881.1:p.Lys336Thr
ENST00000683813.1:n.1236A>C
ENST00000684032.1:c.1363A>C	ENSP00000506969.1:n.1363A>C
ENST00000684201.1:c.1232A>C	ENSP00000507887.1:p.Lys411Thr
ENST00000684338.1:c.1508A>C	ENSP00000507457.1:p.Lys503Thr
ENST00000684372.1:c.1007A>C	ENSP00000508244.1:p.Lys336Thr
ENST00000684434.1:c.979A>C
ENST00000684546.1:c.1007A>C	ENSP00000507729.1:p.Lys336Thr
ENST00000684665.1:n.472A>C
ENST00000684690.1:n.1735A>C
ENST00000684699.1:n.4087A>C
ENST00000277865.5:c.1508A>C MANE Select	ENSP00000277865.4:p.Lys503Thr
ENST00000277865.4:c.1508A>C	ENSP00000277865.4:p.Lys503Thr
NM_005271.3:c.1508A>C	NP_005262.1:p.Lys503Thr
XM_011539668.1:c.1007A>C	XP_011537970.1:p.Lys336Thr
XM_011539669.1:c.1007A>C	XP_011537971.1:p.Lys336Thr
NM_001318900.1:c.1109A>C	NP_001305829.1:p.Lys370Thr
NM_001318901.1:c.1007A>C	NP_001305830.1:p.Lys336Thr
NM_001318902.1:c.1007A>C	NP_001305831.1:p.Lys336Thr
NM_001318904.1:c.1007A>C	NP_001305833.1:p.Lys336Thr
NM_001318905.1:c.1007A>C	NP_001305834.1:p.Lys336Thr
NM_001318906.1:c.1007A>C	NP_001305835.1:p.Lys336Thr
NM_005271.4:c.1508A>C	NP_005262.1:p.Lys503Thr
NM_005271.5:c.1508A>C MANE Select	NP_005262.1:p.Lys503Thr
NM_001318904.2:c.1007A>C	NP_001305833.1:p.Lys336Thr
NM_001318905.2:c.1007A>C	NP_001305834.1:p.Lys336Thr
NM_001318906.2:c.1007A>C	NP_001305835.1:p.Lys336Thr