Canonical Allele Identifier: CA375726204

Gene: GRIN1

Linked Data

• ClinVar Variation Id: 487504
• ClinVar RCV Id: RCV000576887
• dbSNP Id: rs1554770624
• MyVariant Identifiers: chr9:g.140058216T>C (hg19) ; chr9:g.137163764T>C (hg38)
• PubMed: PMID:27164704

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137163764T>C , CM000671.2:g.137163764T>C	GRCh38
NC_000009.11:g.140058216T>C , CM000671.1:g.140058216T>C	GRCh37
NC_000009.10:g.139178037T>C	NCBI36
NG_011507.1:g.29608T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371553.8:c.2512T>C	ENSP00000360608.3:p.Phe838Leu
ENST00000371560.5:c.2512T>C	ENSP00000360615.3:p.Phe838Leu
ENST00000371561.8:c.2449T>C MANE Select	ENSP00000360616.3:p.Phe817Leu
ENST00000675295.1:n.1879T>C
ENST00000350902.9:c.*1424T>C	ENSP00000316915.9:n.*1424T>C
ENST00000371546.8:c.2512T>C	ENSP00000360601.4:p.Phe838Leu
ENST00000371550.8:c.2449T>C	ENSP00000360605.4:p.Phe817Leu
ENST00000371553.7:c.2512T>C	ENSP00000360608.3:p.Phe838Leu
ENST00000371555.8:c.2512T>C	ENSP00000360610.4:p.Phe838Leu
ENST00000371559.8:c.2449T>C	ENSP00000360614.4:p.Phe817Leu
ENST00000371560.4:c.2512T>C	ENSP00000360615.3:p.Phe838Leu
ENST00000371561.7:c.2449T>C	ENSP00000360616.3:p.Phe817Leu
ENST00000460273.1:n.470T>C
ENST00000471122.5:n.2526T>C
NM_000832.6:c.2449T>C	NP_000823.4:p.Phe817Leu
NM_001185090.1:c.2512T>C	NP_001172019.1:p.Phe838Leu
NM_001185091.1:c.2512T>C	NP_001172020.1:p.Phe838Leu
NM_007327.3:c.2449T>C	NP_015566.1:p.Phe817Leu
NM_021569.3:c.2449T>C	NP_067544.1:p.Phe817Leu
XM_005266071.2:c.2449T>C	XP_005266128.1:p.Phe817Leu
XM_005266072.2:c.2512T>C	XP_005266129.1:p.Phe838Leu
XM_005266073.3:c.2512T>C	XP_005266130.1:p.Phe838Leu
XM_011518583.1:c.2512T>C	XP_011516885.1:p.Phe838Leu
XM_005266071.3:c.2449T>C	XP_005266128.1:p.Phe817Leu
XM_005266072.3:c.2512T>C	XP_005266129.1:p.Phe838Leu
XM_005266073.4:c.2512T>C	XP_005266130.1:p.Phe838Leu
XM_011518583.2:c.2512T>C	XP_011516885.1:p.Phe838Leu
NM_007327.4:c.2449T>C MANE Select	NP_015566.1:p.Phe817Leu
NM_000832.7:c.2449T>C	NP_000823.4:p.Phe817Leu
NM_001185090.2:c.2512T>C	NP_001172019.1:p.Phe838Leu
NM_001185091.2:c.2512T>C	NP_001172020.1:p.Phe838Leu
NM_021569.4:c.2449T>C	NP_067544.1:p.Phe817Leu