Canonical Allele Identifier: CA467850391

Gene: GRIN1

Linked Data

• ClinVar Variation Id: 1120789
• ClinVar RCV Id: RCV001450865
• dbSNP Id: rs1350747252
• MyVariant Identifiers: chr9:g.140057336G>A (hg19) ; chr9:g.137162884G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137162884G>A , CM000671.2:g.137162884G>A	GRCh38
NC_000009.11:g.140057336G>A , CM000671.1:g.140057336G>A	GRCh37
NC_000009.10:g.139177157G>A	NCBI36
NG_011507.1:g.28728G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371553.8:c.2115G>A	ENSP00000360608.3:p.Val705=
ENST00000371560.5:c.2115G>A	ENSP00000360615.3:p.Val705=
ENST00000371561.8:c.2052G>A MANE Select	ENSP00000360616.3:p.Val684=
ENST00000675295.1:n.1482G>A
ENST00000350902.9:c.*1027G>A	ENSP00000316915.9:n.*1027G>A
ENST00000371546.8:c.2115G>A	ENSP00000360601.4:p.Val705=
ENST00000371550.8:c.2052G>A	ENSP00000360605.4:p.Val684=
ENST00000371553.7:c.2115G>A	ENSP00000360608.3:p.Val705=
ENST00000371555.8:c.2115G>A	ENSP00000360610.4:p.Val705=
ENST00000371559.8:c.2052G>A	ENSP00000360614.4:p.Val684=
ENST00000371560.4:c.2115G>A	ENSP00000360615.3:p.Val705=
ENST00000371561.7:c.2052G>A	ENSP00000360616.3:p.Val684=
ENST00000460273.1:n.73G>A
ENST00000471122.5:n.2129G>A
NM_000832.6:c.2052G>A	NP_000823.4:p.Val684=
NM_001185090.1:c.2115G>A	NP_001172019.1:p.Val705=
NM_001185091.1:c.2115G>A	NP_001172020.1:p.Val705=
NM_007327.3:c.2052G>A	NP_015566.1:p.Val684=
NM_021569.3:c.2052G>A	NP_067544.1:p.Val684=
XM_005266071.2:c.2052G>A	XP_005266128.1:p.Val684=
XM_005266072.2:c.2115G>A	XP_005266129.1:p.Val705=
XM_005266073.3:c.2115G>A	XP_005266130.1:p.Val705=
XM_011518583.1:c.2115G>A	XP_011516885.1:p.Val705=
XM_005266071.3:c.2052G>A	XP_005266128.1:p.Val684=
XM_005266072.3:c.2115G>A	XP_005266129.1:p.Val705=
XM_005266073.4:c.2115G>A	XP_005266130.1:p.Val705=
XM_011518583.2:c.2115G>A	XP_011516885.1:p.Val705=
NM_007327.4:c.2052G>A MANE Select	NP_015566.1:p.Val684=
NM_000832.7:c.2052G>A	NP_000823.4:p.Val684=
NM_001185090.2:c.2115G>A	NP_001172019.1:p.Val705=
NM_001185091.2:c.2115G>A	NP_001172020.1:p.Val705=
NM_021569.4:c.2052G>A	NP_067544.1:p.Val684=