Canonical Allele Identifier: CA5360839
Gene: GRIN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 472570
ClinVar RCV Id: RCV000553061
dbSNP Id: rs779390664

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137158613A>G , CM000671.2:g.137158613A>G GRCh38
NC_000009.11:g.140053065A>G , CM000671.1:g.140053065A>G GRCh37
NC_000009.10:g.139172886A>G NCBI36
NG_011507.1:g.24457A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371553.8:c.1177-8A>G ENSP00000360608.3:n.1177-8A>G
ENST00000371560.5:c.1177-8A>G ENSP00000360615.3:n.1177-8A>G
ENST00000371561.8:c.1114-8A>G MANE Select ENSP00000360616.3:n.1114-8A>G
ENST00000675295.1:n.544-8A>G
ENST00000676396.1:n.2624-8A>G
ENST00000350902.9:c.*89-8A>G ENSP00000316915.9:n.*89-8A>G
ENST00000371546.8:c.1177-8A>G ENSP00000360601.4:n.1177-8A>G
ENST00000371550.8:c.1114-8A>G ENSP00000360605.4:n.1114-8A>G
ENST00000371553.7:c.1177-8A>G ENSP00000360608.3:n.1177-8A>G
ENST00000371555.8:c.1177-8A>G ENSP00000360610.4:n.1177-8A>G
ENST00000371559.8:c.1114-8A>G ENSP00000360614.4:n.1114-8A>G
ENST00000371560.4:c.1177-8A>G ENSP00000360615.3:n.1177-8A>G
ENST00000371561.7:c.1114-8A>G ENSP00000360616.3:n.1114-8A>G
ENST00000471122.5:n.1191-8A>G
ENST00000485413.1:n.297A>G
NM_000832.6:c.1114-8A>G NP_000823.4:n.1114-8A>G
NM_001185090.1:c.1177-8A>G NP_001172019.1:n.1177-8A>G
NM_001185091.1:c.1177-8A>G NP_001172020.1:n.1177-8A>G
NM_007327.3:c.1114-8A>G NP_015566.1:n.1114-8A>G
NM_021569.3:c.1114-8A>G NP_067544.1:n.1114-8A>G
XM_005266071.2:c.1114-8A>G XP_005266128.1:n.1114-8A>G
XM_005266072.2:c.1177-8A>G XP_005266129.1:n.1177-8A>G
XM_005266073.3:c.1177-8A>G XP_005266130.1:n.1177-8A>G
XM_011518583.1:c.1177-8A>G XP_011516885.1:n.1177-8A>G
XM_005266071.3:c.1114-8A>G XP_005266128.1:n.1114-8A>G
XM_005266072.3:c.1177-8A>G XP_005266129.1:n.1177-8A>G
XM_005266073.4:c.1177-8A>G XP_005266130.1:n.1177-8A>G
XM_011518583.2:c.1177-8A>G XP_011516885.1:n.1177-8A>G
NM_007327.4:c.1114-8A>G MANE Select NP_015566.1:n.1114-8A>G
NM_000832.7:c.1114-8A>G NP_000823.4:n.1114-8A>G
NM_001185090.2:c.1177-8A>G NP_001172019.1:n.1177-8A>G
NM_001185091.2:c.1177-8A>G NP_001172020.1:n.1177-8A>G
NM_021569.4:c.1114-8A>G NP_067544.1:n.1114-8A>G