Canonical Allele Identifier: CA357904

Gene: GRIN1

Linked Data

• ClinVar Variation Id: 224815
• ClinVar RCV Id: RCV000760222 ; RCV000210389 ; RCV002051695
• dbSNP Id: rs869312865
• gnomAD v4: 9-137156676-G-C
• MyVariant Identifiers: chr9:g.140051128G>C (hg19) ; chr9:g.137156676G>C (hg38)
• PubMed: PMID:26350515 ; PMID:27164704 ; PMID:28051072

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137156676G>C , CM000671.2:g.137156676G>C	GRCh38
NC_000009.11:g.140051128G>C , CM000671.1:g.140051128G>C	GRCh37
NC_000009.10:g.139170949G>C	NCBI36
NG_011507.1:g.22520G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371553.8:c.742G>C	ENSP00000360608.3:p.Asp248His
ENST00000371560.5:c.742G>C	ENSP00000360615.3:p.Asp248His
ENST00000371561.8:c.679G>C MANE Select	ENSP00000360616.3:p.Asp227His
ENST00000675295.1:n.109G>C
ENST00000676396.1:n.2189G>C
ENST00000350902.9:c.742G>C	ENSP00000316915.9:p.Asp248His
ENST00000371546.8:c.742G>C	ENSP00000360601.4:p.Asp248His
ENST00000371550.8:c.679G>C	ENSP00000360605.4:p.Asp227His
ENST00000371553.7:c.742G>C	ENSP00000360608.3:p.Asp248His
ENST00000371555.8:c.742G>C	ENSP00000360610.4:p.Asp248His
ENST00000371559.8:c.679G>C	ENSP00000360614.4:p.Asp227His
ENST00000371560.4:c.742G>C	ENSP00000360615.3:p.Asp248His
ENST00000371561.7:c.679G>C	ENSP00000360616.3:p.Asp227His
ENST00000471122.5:n.756G>C
NM_000832.6:c.679G>C	NP_000823.4:p.Asp227His
NM_001185090.1:c.742G>C	NP_001172019.1:p.Asp248His
NM_001185091.1:c.742G>C	NP_001172020.1:p.Asp248His
NM_007327.3:c.679G>C	NP_015566.1:p.Asp227His
NM_021569.3:c.679G>C	NP_067544.1:p.Asp227His
XM_005266071.2:c.679G>C	XP_005266128.1:p.Asp227His
XM_005266072.2:c.742G>C	XP_005266129.1:p.Asp248His
XM_005266073.3:c.742G>C	XP_005266130.1:p.Asp248His
XM_011518583.1:c.742G>C	XP_011516885.1:p.Asp248His
XM_005266071.3:c.679G>C	XP_005266128.1:p.Asp227His
XM_005266072.3:c.742G>C	XP_005266129.1:p.Asp248His
XM_005266073.4:c.742G>C	XP_005266130.1:p.Asp248His
XM_011518583.2:c.742G>C	XP_011516885.1:p.Asp248His
NM_007327.4:c.679G>C MANE Select	NP_015566.1:p.Asp227His
NM_000832.7:c.679G>C	NP_000823.4:p.Asp227His
NM_001185090.2:c.742G>C	NP_001172019.1:p.Asp248His
NM_001185091.2:c.742G>C	NP_001172020.1:p.Asp248His
NM_021569.4:c.679G>C	NP_067544.1:p.Asp227His