Canonical Allele Identifier: CA5361230
Gene: GRIN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 383068
dbSNP Id: rs201012245

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137167509C>T , CM000671.2:g.137167509C>T GRCh38
NC_000009.11:g.140061961C>T , CM000671.1:g.140061961C>T GRCh37
NC_000009.10:g.139181782C>T NCBI36
NG_011507.1:g.33353C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371561.8:c.2799C>T MANE Select ENSP00000360616.3:p.Ser933=
ENST00000371546.8:c.2862C>T ENSP00000360601.4:p.Ser954=
ENST00000371550.8:c.2688C>T ENSP00000360605.4:p.Ser896=
ENST00000371553.7:c.2764-265C>T ENSP00000360608.3:p.=
ENST00000371555.8:c.2751C>T ENSP00000360610.4:p.Ser917=
ENST00000371559.8:c.2590-265C>T ENSP00000360614.4:p.=
ENST00000371560.4:c.2653-265C>T ENSP00000360615.3:p.=
ENST00000371561.7:c.2799C>T ENSP00000360616.3:p.Ser933=
ENST00000473811.1:n.279C>T
NM_000832.6:c.2590-265C>T NP_000823.4:p.=
NM_001185090.1:c.2764-265C>T NP_001172019.1:p.=
NM_001185091.1:c.2653-265C>T NP_001172020.1:p.=
NM_007327.3:c.2799C>T NP_015566.1:p.Ser933=
NM_021569.3:c.2688C>T NP_067544.1:p.Ser896=
XM_005266071.2:c.2701-265C>T XP_005266128.1:p.=
XM_005266072.2:c.2751C>T XP_005266129.1:p.Ser917=
XM_005266073.3:c.2862C>T XP_005266130.1:p.Ser954=
XM_005266071.3:n.2701-265C>T XP_005266128.1:p.=
XM_005266072.3:c.2751C>T XP_005266129.1:p.Ser917=
XM_005266073.4:c.2862C>T XP_005266130.1:p.Ser954=
NM_007327.4:c.2799C>T MANE Select NP_015566.1:p.Ser933=
NM_000832.7:c.2590-265C>T NP_000823.4:p.=
NM_001185090.2:c.2764-265C>T NP_001172019.1:p.=
NM_001185091.2:c.2653-265C>T NP_001172020.1:p.=
NM_021569.4:c.2688C>T NP_067544.1:p.Ser896=