Canonical Allele Identifier: CA257425
Gene: GLUD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16123
ClinVar RCV Id: RCV000017503
dbSNP Id: rs121909732

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87053398A>G , CM000672.2:g.87053398A>G GRCh38
NC_000010.10:g.88813155A>G , CM000672.1:g.88813155A>G GRCh37
NC_000010.9:g.88803135A>G NCBI36
NG_013010.1:g.46622T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000474574.2:n.3076T>C
ENST00000487058.2:n.1248T>C
ENST00000681987.1:n.1339T>C
ENST00000681988.1:c.1000T>C ENSP00000507316.1:p.Ser334Pro
ENST00000682396.1:c.1492T>C ENSP00000506764.1:n.1492T>C
ENST00000682507.1:c.1000T>C ENSP00000508098.1:p.Ser334Pro
ENST00000682622.1:c.1781T>C ENSP00000506732.1:n.1781T>C
ENST00000682833.1:c.1336T>C
ENST00000683022.1:c.1522T>C
ENST00000683256.1:c.1000T>C ENSP00000507901.1:p.Ser334Pro
ENST00000683269.1:c.1000T>C ENSP00000508107.1:p.Ser334Pro
ENST00000683647.1:n.4835T>C
ENST00000683649.1:n.351T>C
ENST00000683783.1:c.1000T>C ENSP00000507881.1:p.Ser334Pro
ENST00000683813.1:n.1229T>C
ENST00000684032.1:c.1356T>C ENSP00000506969.1:n.1356T>C
ENST00000684201.1:c.1225T>C ENSP00000507887.1:p.Ser409Pro
ENST00000684338.1:c.1501T>C ENSP00000507457.1:p.Ser501Pro
ENST00000684372.1:c.1000T>C ENSP00000508244.1:p.Ser334Pro
ENST00000684434.1:c.972T>C
ENST00000684546.1:c.1000T>C ENSP00000507729.1:p.Ser334Pro
ENST00000684665.1:n.465T>C
ENST00000684690.1:n.1728T>C
ENST00000684699.1:n.4080T>C
ENST00000277865.5:c.1501T>C MANE Select ENSP00000277865.4:p.Ser501Pro
ENST00000277865.4:c.1501T>C ENSP00000277865.4:p.Ser501Pro
NM_005271.3:c.1501T>C NP_005262.1:p.Ser501Pro
XM_011539668.1:c.1000T>C XP_011537970.1:p.Ser334Pro
XM_011539669.1:c.1000T>C XP_011537971.1:p.Ser334Pro
NM_001318900.1:c.1102T>C NP_001305829.1:p.Ser368Pro
NM_001318901.1:c.1000T>C NP_001305830.1:p.Ser334Pro
NM_001318902.1:c.1000T>C NP_001305831.1:p.Ser334Pro
NM_001318904.1:c.1000T>C NP_001305833.1:p.Ser334Pro
NM_001318905.1:c.1000T>C NP_001305834.1:p.Ser334Pro
NM_001318906.1:c.1000T>C NP_001305835.1:p.Ser334Pro
NM_005271.4:c.1501T>C NP_005262.1:p.Ser501Pro
NM_005271.5:c.1501T>C MANE Select NP_005262.1:p.Ser501Pro
NM_001318904.2:c.1000T>C NP_001305833.1:p.Ser334Pro
NM_001318905.2:c.1000T>C NP_001305834.1:p.Ser334Pro
NM_001318906.2:c.1000T>C NP_001305835.1:p.Ser334Pro