Canonical Allele Identifier: CA375714655
Gene: GRIN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2499684
ClinVar RCV Id: RCV003223776
dbSNP Id: rs1472478100

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137156688G>C , CM000671.2:g.137156688G>C GRCh38
NC_000009.11:g.140051140G>C , CM000671.1:g.140051140G>C GRCh37
NC_000009.10:g.139170961G>C NCBI36
NG_011507.1:g.22532G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371553.8:c.754G>C ENSP00000360608.3:p.Val252Leu
ENST00000371560.5:c.754G>C ENSP00000360615.3:p.Val252Leu
ENST00000371561.8:c.691G>C MANE Select ENSP00000360616.3:p.Val231Leu
ENST00000675295.1:n.121G>C
ENST00000676396.1:n.2201G>C
ENST00000350902.9:c.754G>C ENSP00000316915.9:p.Val252Leu
ENST00000371546.8:c.754G>C ENSP00000360601.4:p.Val252Leu
ENST00000371550.8:c.691G>C ENSP00000360605.4:p.Val231Leu
ENST00000371553.7:c.754G>C ENSP00000360608.3:p.Val252Leu
ENST00000371555.8:c.754G>C ENSP00000360610.4:p.Val252Leu
ENST00000371559.8:c.691G>C ENSP00000360614.4:p.Val231Leu
ENST00000371560.4:c.754G>C ENSP00000360615.3:p.Val252Leu
ENST00000371561.7:c.691G>C ENSP00000360616.3:p.Val231Leu
ENST00000471122.5:n.768G>C
NM_000832.6:c.691G>C NP_000823.4:p.Val231Leu
NM_001185090.1:c.754G>C NP_001172019.1:p.Val252Leu
NM_001185091.1:c.754G>C NP_001172020.1:p.Val252Leu
NM_007327.3:c.691G>C NP_015566.1:p.Val231Leu
NM_021569.3:c.691G>C NP_067544.1:p.Val231Leu
XM_005266071.2:c.691G>C XP_005266128.1:p.Val231Leu
XM_005266072.2:c.754G>C XP_005266129.1:p.Val252Leu
XM_005266073.3:c.754G>C XP_005266130.1:p.Val252Leu
XM_011518583.1:c.754G>C XP_011516885.1:p.Val252Leu
XM_005266071.3:c.691G>C XP_005266128.1:p.Val231Leu
XM_005266072.3:c.754G>C XP_005266129.1:p.Val252Leu
XM_005266073.4:c.754G>C XP_005266130.1:p.Val252Leu
XM_011518583.2:c.754G>C XP_011516885.1:p.Val252Leu
NM_007327.4:c.691G>C MANE Select NP_015566.1:p.Val231Leu
NM_000832.7:c.691G>C NP_000823.4:p.Val231Leu
NM_001185090.2:c.754G>C NP_001172019.1:p.Val252Leu
NM_001185091.2:c.754G>C NP_001172020.1:p.Val252Leu
NM_021569.4:c.691G>C NP_067544.1:p.Val231Leu