Canonical Allele Identifier: CA375726017
Gene: GRIN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1452432
ClinVar RCV Id: RCV001999807
dbSNP Id: rs797044925

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137163668G>C , CM000671.2:g.137163668G>C GRCh38
NC_000009.11:g.140058120G>C , CM000671.1:g.140058120G>C GRCh37
NC_000009.10:g.139177941G>C NCBI36
NG_011507.1:g.29512G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371553.8:c.2506G>C ENSP00000360608.3:p.Gly836Arg
ENST00000371560.5:c.2506G>C ENSP00000360615.3:p.Gly836Arg
ENST00000371561.8:c.2443G>C MANE Select ENSP00000360616.3:p.Gly815Arg
ENST00000675295.1:n.1873G>C
ENST00000350902.9:c.*1418G>C ENSP00000316915.9:n.*1418G>C
ENST00000371546.8:c.2506G>C ENSP00000360601.4:p.Gly836Arg
ENST00000371550.8:c.2443G>C ENSP00000360605.4:p.Gly815Arg
ENST00000371553.7:c.2506G>C ENSP00000360608.3:p.Gly836Arg
ENST00000371555.8:c.2506G>C ENSP00000360610.4:p.Gly836Arg
ENST00000371559.8:c.2443G>C ENSP00000360614.4:p.Gly815Arg
ENST00000371560.4:c.2506G>C ENSP00000360615.3:p.Gly836Arg
ENST00000371561.7:c.2443G>C ENSP00000360616.3:p.Gly815Arg
ENST00000460273.1:n.464G>C
ENST00000471122.5:n.2520G>C
NM_000832.6:c.2443G>C NP_000823.4:p.Gly815Arg
NM_001185090.1:c.2506G>C NP_001172019.1:p.Gly836Arg
NM_001185091.1:c.2506G>C NP_001172020.1:p.Gly836Arg
NM_007327.3:c.2443G>C NP_015566.1:p.Gly815Arg
NM_021569.3:c.2443G>C NP_067544.1:p.Gly815Arg
XM_005266071.2:c.2443G>C XP_005266128.1:p.Gly815Arg
XM_005266072.2:c.2506G>C XP_005266129.1:p.Gly836Arg
XM_005266073.3:c.2506G>C XP_005266130.1:p.Gly836Arg
XM_011518583.1:c.2506G>C XP_011516885.1:p.Gly836Arg
XM_005266071.3:c.2443G>C XP_005266128.1:p.Gly815Arg
XM_005266072.3:c.2506G>C XP_005266129.1:p.Gly836Arg
XM_005266073.4:c.2506G>C XP_005266130.1:p.Gly836Arg
XM_011518583.2:c.2506G>C XP_011516885.1:p.Gly836Arg
NM_007327.4:c.2443G>C MANE Select NP_015566.1:p.Gly815Arg
NM_000832.7:c.2443G>C NP_000823.4:p.Gly815Arg
NM_001185090.2:c.2506G>C NP_001172019.1:p.Gly836Arg
NM_001185091.2:c.2506G>C NP_001172020.1:p.Gly836Arg
NM_021569.4:c.2443G>C NP_067544.1:p.Gly815Arg