Canonical Allele Identifier: CA375718896

Gene: GRIN1

Linked Data

• ClinVar Variation Id: 592388
• ClinVar RCV Id: RCV000727630
• dbSNP Id: rs1564363549
• gnomAD v4: 9-137162417-T-C
• MyVariant Identifiers: chr9:g.140056869T>C (hg19) ; chr9:g.137162417T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137162417T>C , CM000671.2:g.137162417T>C	GRCh38
NC_000009.11:g.140056869T>C , CM000671.1:g.140056869T>C	GRCh37
NC_000009.10:g.139176690T>C	NCBI36
NG_011507.1:g.28261T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371553.8:c.1828T>C	ENSP00000360608.3:p.Phe610Leu
ENST00000371560.5:c.1828T>C	ENSP00000360615.3:p.Phe610Leu
ENST00000371561.8:c.1765T>C MANE Select	ENSP00000360616.3:p.Phe589Leu
ENST00000675295.1:n.1195T>C
ENST00000350902.9:c.*740T>C	ENSP00000316915.9:n.*740T>C
ENST00000371546.8:c.1828T>C	ENSP00000360601.4:p.Phe610Leu
ENST00000371550.8:c.1765T>C	ENSP00000360605.4:p.Phe589Leu
ENST00000371553.7:c.1828T>C	ENSP00000360608.3:p.Phe610Leu
ENST00000371555.8:c.1828T>C	ENSP00000360610.4:p.Phe610Leu
ENST00000371559.8:c.1765T>C	ENSP00000360614.4:p.Phe589Leu
ENST00000371560.4:c.1828T>C	ENSP00000360615.3:p.Phe610Leu
ENST00000371561.7:c.1765T>C	ENSP00000360616.3:p.Phe589Leu
ENST00000471122.5:n.1842T>C
NM_000832.6:c.1765T>C	NP_000823.4:p.Phe589Leu
NM_001185090.1:c.1828T>C	NP_001172019.1:p.Phe610Leu
NM_001185091.1:c.1828T>C	NP_001172020.1:p.Phe610Leu
NM_007327.3:c.1765T>C	NP_015566.1:p.Phe589Leu
NM_021569.3:c.1765T>C	NP_067544.1:p.Phe589Leu
XM_005266071.2:c.1765T>C	XP_005266128.1:p.Phe589Leu
XM_005266072.2:c.1828T>C	XP_005266129.1:p.Phe610Leu
XM_005266073.3:c.1828T>C	XP_005266130.1:p.Phe610Leu
XM_011518583.1:c.1828T>C	XP_011516885.1:p.Phe610Leu
XM_005266071.3:c.1765T>C	XP_005266128.1:p.Phe589Leu
XM_005266072.3:c.1828T>C	XP_005266129.1:p.Phe610Leu
XM_005266073.4:c.1828T>C	XP_005266130.1:p.Phe610Leu
XM_011518583.2:c.1828T>C	XP_011516885.1:p.Phe610Leu
NM_007327.4:c.1765T>C MANE Select	NP_015566.1:p.Phe589Leu
NM_000832.7:c.1765T>C	NP_000823.4:p.Phe589Leu
NM_001185090.2:c.1828T>C	NP_001172019.1:p.Phe610Leu
NM_001185091.2:c.1828T>C	NP_001172020.1:p.Phe610Leu
NM_021569.4:c.1765T>C	NP_067544.1:p.Phe589Leu