Canonical Allele Identifier: CA5587395

Gene: GLUD1

Linked Data

• ClinVar Variation Id: 301391
• ClinVar RCV Id: RCV000390738
• dbSNP Id: rs774771496
• ExAC: 10:88813141 G / A
• gnomAD v2: 10-88813141-G-A
• gnomAD v3: 10-87053384-G-A
• gnomAD v4: 10-87053384-G-A
• COSMIC: COSM3731480
• MyVariant Identifiers: chr10:g.88813141G>A (hg19) ; chr10:g.87053384G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87053384G>A , CM000672.2:g.87053384G>A	GRCh38
NC_000010.10:g.88813141G>A , CM000672.1:g.88813141G>A	GRCh37
NC_000010.9:g.88803121G>A	NCBI36
NG_013010.1:g.46636C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000474574.2:n.3090C>T
ENST00000487058.2:n.1262C>T
ENST00000681987.1:n.1353C>T
ENST00000681988.1:c.1014C>T	ENSP00000507316.1:p.Ile338=
ENST00000682396.1:c.1506C>T	ENSP00000506764.1:n.1506C>T
ENST00000682507.1:c.1014C>T	ENSP00000508098.1:p.Ile338=
ENST00000682622.1:c.1795C>T	ENSP00000506732.1:n.1795C>T
ENST00000682833.1:c.1350C>T
ENST00000683022.1:c.1536C>T
ENST00000683256.1:c.1014C>T	ENSP00000507901.1:p.Ile338=
ENST00000683269.1:c.1014C>T	ENSP00000508107.1:p.Ile338=
ENST00000683647.1:n.4849C>T
ENST00000683649.1:n.365C>T
ENST00000683783.1:c.1014C>T	ENSP00000507881.1:p.Ile338=
ENST00000683813.1:n.1243C>T
ENST00000684032.1:c.1370C>T	ENSP00000506969.1:n.1370C>T
ENST00000684201.1:c.1239C>T	ENSP00000507887.1:p.Ile413=
ENST00000684338.1:c.1515C>T	ENSP00000507457.1:p.Ile505=
ENST00000684372.1:c.1014C>T	ENSP00000508244.1:p.Ile338=
ENST00000684434.1:c.986C>T
ENST00000684546.1:c.1014C>T	ENSP00000507729.1:p.Ile338=
ENST00000684665.1:n.479C>T
ENST00000684690.1:n.1742C>T
ENST00000684699.1:n.4094C>T
ENST00000277865.5:c.1515C>T MANE Select	ENSP00000277865.4:p.Ile505=
ENST00000277865.4:c.1515C>T	ENSP00000277865.4:p.Ile505=
NM_005271.3:c.1515C>T	NP_005262.1:p.Ile505=
XM_011539668.1:c.1014C>T	XP_011537970.1:p.Ile338=
XM_011539669.1:c.1014C>T	XP_011537971.1:p.Ile338=
NM_001318900.1:c.1116C>T	NP_001305829.1:p.Ile372=
NM_001318901.1:c.1014C>T	NP_001305830.1:p.Ile338=
NM_001318902.1:c.1014C>T	NP_001305831.1:p.Ile338=
NM_001318904.1:c.1014C>T	NP_001305833.1:p.Ile338=
NM_001318905.1:c.1014C>T	NP_001305834.1:p.Ile338=
NM_001318906.1:c.1014C>T	NP_001305835.1:p.Ile338=
NM_005271.4:c.1515C>T	NP_005262.1:p.Ile505=
NM_005271.5:c.1515C>T MANE Select	NP_005262.1:p.Ile505=
NM_001318904.2:c.1014C>T	NP_001305833.1:p.Ile338=
NM_001318905.2:c.1014C>T	NP_001305834.1:p.Ile338=
NM_001318906.2:c.1014C>T	NP_001305835.1:p.Ile338=