Canonical Allele Identifier: CA5361086
Gene: GRIN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 539846
ClinVar RCV Id: RCV000649670
dbSNP Id: rs200518957

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137163232C>T , CM000671.2:g.137163232C>T GRCh38
NC_000009.11:g.140057684C>T , CM000671.1:g.140057684C>T GRCh37
NC_000009.10:g.139177505C>T NCBI36
NG_011507.1:g.29076C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371561.8:c.2235C>T MANE Select ENSP00000360616.3:p.Asp745=
ENST00000675295.1:n.1665C>T
ENST00000350902.9:c.*1210C>T ENSP00000316915.9:p.=
ENST00000371546.8:c.2298C>T ENSP00000360601.4:p.Asp766=
ENST00000371550.8:c.2235C>T ENSP00000360605.4:p.Asp745=
ENST00000371553.7:c.2298C>T ENSP00000360608.3:p.Asp766=
ENST00000371555.8:c.2298C>T ENSP00000360610.4:p.Asp766=
ENST00000371559.8:c.2235C>T ENSP00000360614.4:p.Asp745=
ENST00000371560.4:c.2298C>T ENSP00000360615.3:p.Asp766=
ENST00000371561.7:c.2235C>T ENSP00000360616.3:p.Asp745=
ENST00000460273.1:n.256C>T
ENST00000471122.5:n.2312C>T
NM_000832.6:c.2235C>T NP_000823.4:p.Asp745=
NM_001185090.1:c.2298C>T NP_001172019.1:p.Asp766=
NM_001185091.1:c.2298C>T NP_001172020.1:p.Asp766=
NM_007327.3:c.2235C>T NP_015566.1:p.Asp745=
NM_021569.3:c.2235C>T NP_067544.1:p.Asp745=
XM_005266071.2:c.2235C>T XP_005266128.1:p.Asp745=
XM_005266072.2:c.2298C>T XP_005266129.1:p.Asp766=
XM_005266073.3:c.2298C>T XP_005266130.1:p.Asp766=
XM_011518583.1:c.2298C>T XP_011516885.1:p.Asp766=
XM_005266071.3:n.2235C>T XP_005266128.1:p.Asp745=
XM_005266072.3:c.2298C>T XP_005266129.1:p.Asp766=
XM_005266073.4:c.2298C>T XP_005266130.1:p.Asp766=
XM_011518583.2:c.2298C>T XP_011516885.1:p.Asp766=
NM_007327.4:c.2235C>T MANE Select NP_015566.1:p.Asp745=
NM_000832.7:c.2235C>T NP_000823.4:p.Asp745=
NM_001185090.2:c.2298C>T NP_001172019.1:p.Asp766=
NM_001185091.2:c.2298C>T NP_001172020.1:p.Asp766=
NM_021569.4:c.2235C>T NP_067544.1:p.Asp745=