Canonical Allele Identifier: CA5361031

Gene: GRIN1

Linked Data

• ClinVar Variation Id: 2007504
• ClinVar RCV Id: RCV002812157
• dbSNP Id: rs200773184
• ExAC: 9:140057185 C / T
• gnomAD v2: 9-140057185-C-T
• gnomAD v4: 9-137162733-C-T
• MyVariant Identifiers: chr9:g.140057185C>T (hg19) ; chr9:g.137162733C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137162733C>T , CM000671.2:g.137162733C>T	GRCh38
NC_000009.11:g.140057185C>T , CM000671.1:g.140057185C>T	GRCh37
NC_000009.10:g.139177006C>T	NCBI36
NG_011507.1:g.28577C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371553.8:c.2070C>T	ENSP00000360608.3:p.Asp690=
ENST00000371560.5:c.2070C>T	ENSP00000360615.3:p.Asp690=
ENST00000371561.8:c.2007C>T MANE Select	ENSP00000360616.3:p.Asp669=
ENST00000675295.1:n.1437C>T
ENST00000350902.9:c.*982C>T	ENSP00000316915.9:n.*982C>T
ENST00000371546.8:c.2070C>T	ENSP00000360601.4:p.Asp690=
ENST00000371550.8:c.2007C>T	ENSP00000360605.4:p.Asp669=
ENST00000371553.7:c.2070C>T	ENSP00000360608.3:p.Asp690=
ENST00000371555.8:c.2070C>T	ENSP00000360610.4:p.Asp690=
ENST00000371559.8:c.2007C>T	ENSP00000360614.4:p.Asp669=
ENST00000371560.4:c.2070C>T	ENSP00000360615.3:p.Asp690=
ENST00000371561.7:c.2007C>T	ENSP00000360616.3:p.Asp669=
ENST00000460273.1:n.28C>T
ENST00000471122.5:n.2084C>T
NM_000832.6:c.2007C>T	NP_000823.4:p.Asp669=
NM_001185090.1:c.2070C>T	NP_001172019.1:p.Asp690=
NM_001185091.1:c.2070C>T	NP_001172020.1:p.Asp690=
NM_007327.3:c.2007C>T	NP_015566.1:p.Asp669=
NM_021569.3:c.2007C>T	NP_067544.1:p.Asp669=
XM_005266071.2:c.2007C>T	XP_005266128.1:p.Asp669=
XM_005266072.2:c.2070C>T	XP_005266129.1:p.Asp690=
XM_005266073.3:c.2070C>T	XP_005266130.1:p.Asp690=
XM_011518583.1:c.2070C>T	XP_011516885.1:p.Asp690=
XM_005266071.3:c.2007C>T	XP_005266128.1:p.Asp669=
XM_005266072.3:c.2070C>T	XP_005266129.1:p.Asp690=
XM_005266073.4:c.2070C>T	XP_005266130.1:p.Asp690=
XM_011518583.2:c.2070C>T	XP_011516885.1:p.Asp690=
NM_007327.4:c.2007C>T MANE Select	NP_015566.1:p.Asp669=
NM_000832.7:c.2007C>T	NP_000823.4:p.Asp669=
NM_001185090.2:c.2070C>T	NP_001172019.1:p.Asp690=
NM_001185091.2:c.2070C>T	NP_001172020.1:p.Asp690=
NM_021569.4:c.2007C>T	NP_067544.1:p.Asp669=