Canonical Allele Identifier: CA209116

Gene: GRIN1

Linked Data

• ClinVar Variation Id: 211109
• ClinVar RCV Id: RCV000194742 ; RCV000649668 ; RCV001697233 ; RCV002426923
• dbSNP Id: rs146086141
• ExAC: 9:140058266 C / T
• gnomAD v2: 9-140058266-C-T
• gnomAD v3: 9-137163814-C-T
• gnomAD v4: 9-137163814-C-T
• COSMIC: COSM3433000 ; COSM3433001
• MyVariant Identifiers: chr9:g.140058266C>T (hg19) ; chr9:g.137163814C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137163814C>T , CM000671.2:g.137163814C>T	GRCh38
NC_000009.11:g.140058266C>T , CM000671.1:g.140058266C>T	GRCh37
NC_000009.10:g.139178087C>T	NCBI36
NG_011507.1:g.29658C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371553.8:c.2562C>T	ENSP00000360608.3:p.Ile854=
ENST00000371560.5:c.2562C>T	ENSP00000360615.3:p.Ile854=
ENST00000371561.8:c.2499C>T MANE Select	ENSP00000360616.3:p.Ile833=
ENST00000675295.1:n.1929C>T
ENST00000350902.9:c.*1474C>T	ENSP00000316915.9:n.*1474C>T
ENST00000371546.8:c.2562C>T	ENSP00000360601.4:p.Ile854=
ENST00000371550.8:c.2499C>T	ENSP00000360605.4:p.Ile833=
ENST00000371553.7:c.2562C>T	ENSP00000360608.3:p.Ile854=
ENST00000371555.8:c.2562C>T	ENSP00000360610.4:p.Ile854=
ENST00000371559.8:c.2499C>T	ENSP00000360614.4:p.Ile833=
ENST00000371560.4:c.2562C>T	ENSP00000360615.3:p.Ile854=
ENST00000371561.7:c.2499C>T	ENSP00000360616.3:p.Ile833=
ENST00000460273.1:n.520C>T
ENST00000471122.5:n.2576C>T
NM_000832.6:c.2499C>T	NP_000823.4:p.Ile833=
NM_001185090.1:c.2562C>T	NP_001172019.1:p.Ile854=
NM_001185091.1:c.2562C>T	NP_001172020.1:p.Ile854=
NM_007327.3:c.2499C>T	NP_015566.1:p.Ile833=
NM_021569.3:c.2499C>T	NP_067544.1:p.Ile833=
XM_005266071.2:c.2499C>T	XP_005266128.1:p.Ile833=
XM_005266072.2:c.2562C>T	XP_005266129.1:p.Ile854=
XM_005266073.3:c.2562C>T	XP_005266130.1:p.Ile854=
XM_011518583.1:c.2562C>T	XP_011516885.1:p.Ile854=
XM_005266071.3:c.2499C>T	XP_005266128.1:p.Ile833=
XM_005266072.3:c.2562C>T	XP_005266129.1:p.Ile854=
XM_005266073.4:c.2562C>T	XP_005266130.1:p.Ile854=
XM_011518583.2:c.2562C>T	XP_011516885.1:p.Ile854=
NM_007327.4:c.2499C>T MANE Select	NP_015566.1:p.Ile833=
NM_000832.7:c.2499C>T	NP_000823.4:p.Ile833=
NM_001185090.2:c.2562C>T	NP_001172019.1:p.Ile854=
NM_001185091.2:c.2562C>T	NP_001172020.1:p.Ile854=
NM_021569.4:c.2499C>T	NP_067544.1:p.Ile833=