Canonical Allele Identifier: CA1884323685
Community Standard Title: NM_007327.4(GRIN1):c.649C= (p.Arg217=)
Gene: GRIN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137149087C= , CM000671.2:g.137149087C= GRCh38
NC_000009.11:g.140043539C= , CM000671.1:g.140043539C= GRCh37
NC_000009.10:g.139163360C= NCBI36
NG_011507.1:g.14931C=

Transcript Alleles

HGVS Amino-acid Change
NM_007327.4:c.649C= MANE Select NP_015566.1:p.Arg217=
ENST00000371561.8:c.649C= MANE Select ENSP00000360616.3:p.Arg217=
NM_000832.6:c.649C= NP_000823.4:p.Arg217=
NM_000832.7:c.649C= NP_000823.4:p.Arg217=
NM_001185090.1:c.712C= NP_001172019.1:p.Arg238=
NM_001185090.2:c.712C= NP_001172019.1:p.Arg238=
NM_001185091.1:c.712C= NP_001172020.1:p.Arg238=
NM_001185091.2:c.712C= NP_001172020.1:p.Arg238=
NM_007327.3:c.649C= NP_015566.1:p.Arg217=
NM_021569.3:c.649C= NP_067544.1:p.Arg217=
NM_021569.4:c.649C= NP_067544.1:p.Arg217=
ENST00000350902.9:c.712C= ENSP00000316915.9:p.Arg238=
ENST00000371546.8:c.712C= ENSP00000360601.4:p.Arg238=
ENST00000371550.8:c.649C= ENSP00000360605.4:p.Arg217=
ENST00000371553.7:c.712C= ENSP00000360608.3:p.Arg238=
ENST00000371553.8:c.712C= ENSP00000360608.3:p.Arg238=
ENST00000371555.8:c.712C= ENSP00000360610.4:p.Arg238=
ENST00000371559.8:c.649C= ENSP00000360614.4:p.Arg217=
ENST00000371560.4:c.712C= ENSP00000360615.3:p.Arg238=
ENST00000371560.5:c.712C= ENSP00000360615.3:p.Arg238=
ENST00000371561.7:c.649C= ENSP00000360616.3:p.Arg217=
ENST00000471122.5:n.726C=
ENST00000675064.1:n.272C=
ENST00000675295.1:n.79C=
XM_005266071.2:c.649C= XP_005266128.1:p.Arg217=
XM_005266071.3:c.649C= XP_005266128.1:p.Arg217=
XM_005266072.2:c.712C= XP_005266129.1:p.Arg238=
XM_005266072.3:c.712C= XP_005266129.1:p.Arg238=
XM_005266073.3:c.712C= XP_005266130.1:p.Arg238=
XM_005266073.4:c.712C= XP_005266130.1:p.Arg238=
XM_011518583.1:c.712C= XP_011516885.1:p.Arg238=
XM_011518583.2:c.712C= XP_011516885.1:p.Arg238=