Canonical Allele Identifier: CA375715227

Gene: GRIN1

Linked Data

• ClinVar Variation Id: 450075
• ClinVar RCV Id: RCV000521029
• dbSNP Id: rs1554768797
• MyVariant Identifiers: chr9:g.140051468A>G (hg19) ; chr9:g.137157016A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137157016A>G , CM000671.2:g.137157016A>G	GRCh38
NC_000009.11:g.140051468A>G , CM000671.1:g.140051468A>G	GRCh37
NC_000009.10:g.139171289A>G	NCBI36
NG_011507.1:g.22860A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371553.8:c.1010A>G	ENSP00000360608.3:p.Lys337Arg
ENST00000371560.5:c.1010A>G	ENSP00000360615.3:p.Lys337Arg
ENST00000371561.8:c.947A>G MANE Select	ENSP00000360616.3:p.Lys316Arg
ENST00000675295.1:n.377A>G
ENST00000676396.1:n.2457A>G
ENST00000350902.9:c.993A>G	ENSP00000316915.9:p.Glu331=
ENST00000371546.8:c.1010A>G	ENSP00000360601.4:p.Lys337Arg
ENST00000371550.8:c.947A>G	ENSP00000360605.4:p.Lys316Arg
ENST00000371553.7:c.1010A>G	ENSP00000360608.3:p.Lys337Arg
ENST00000371555.8:c.1010A>G	ENSP00000360610.4:p.Lys337Arg
ENST00000371559.8:c.947A>G	ENSP00000360614.4:p.Lys316Arg
ENST00000371560.4:c.1010A>G	ENSP00000360615.3:p.Lys337Arg
ENST00000371561.7:c.947A>G	ENSP00000360616.3:p.Lys316Arg
ENST00000471122.5:n.1024A>G
ENST00000485413.1:n.41A>G
NM_000832.6:c.947A>G	NP_000823.4:p.Lys316Arg
NM_001185090.1:c.1010A>G	NP_001172019.1:p.Lys337Arg
NM_001185091.1:c.1010A>G	NP_001172020.1:p.Lys337Arg
NM_007327.3:c.947A>G	NP_015566.1:p.Lys316Arg
NM_021569.3:c.947A>G	NP_067544.1:p.Lys316Arg
XM_005266071.2:c.947A>G	XP_005266128.1:p.Lys316Arg
XM_005266072.2:c.1010A>G	XP_005266129.1:p.Lys337Arg
XM_005266073.3:c.1010A>G	XP_005266130.1:p.Lys337Arg
XM_011518583.1:c.1010A>G	XP_011516885.1:p.Lys337Arg
XM_005266071.3:c.947A>G	XP_005266128.1:p.Lys316Arg
XM_005266072.3:c.1010A>G	XP_005266129.1:p.Lys337Arg
XM_005266073.4:c.1010A>G	XP_005266130.1:p.Lys337Arg
XM_011518583.2:c.1010A>G	XP_011516885.1:p.Lys337Arg
NM_007327.4:c.947A>G MANE Select	NP_015566.1:p.Lys316Arg
NM_000832.7:c.947A>G	NP_000823.4:p.Lys316Arg
NM_001185090.2:c.1010A>G	NP_001172019.1:p.Lys337Arg
NM_001185091.2:c.1010A>G	NP_001172020.1:p.Lys337Arg
NM_021569.4:c.947A>G	NP_067544.1:p.Lys316Arg