Canonical Allele Identifier: CA1130069316

Gene: GRIN1

Linked Data

• ClinVar Variation Id: 2806914
• ClinVar RCV Id: RCV003643602
• dbSNP Id: rs1262184514
• gnomAD v3: 9-137167515-T-C
• gnomAD v4: 9-137167515-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137167515T>C , CM000671.2:g.137167515T>C	GRCh38
NC_000009.11:g.140061967T>C , CM000671.1:g.140061967T>C	GRCh37
NC_000009.10:g.139181788T>C	NCBI36
NG_011507.1:g.33359T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371553.8:c.2764-259T>C	ENSP00000360608.3:n.2764-259T>C
ENST00000371560.5:c.2653-259T>C	ENSP00000360615.3:n.2653-259T>C
ENST00000371561.8:c.2805T>C MANE Select	ENSP00000360616.3:p.His935=
ENST00000371546.8:c.2868T>C	ENSP00000360601.4:p.His956=
ENST00000371550.8:c.2694T>C	ENSP00000360605.4:p.His898=
ENST00000371553.7:c.2764-259T>C	ENSP00000360608.3:n.2764-259T>C
ENST00000371555.8:c.2757T>C	ENSP00000360610.4:p.His919=
ENST00000371559.8:c.2590-259T>C	ENSP00000360614.4:n.2590-259T>C
ENST00000371560.4:c.2653-259T>C	ENSP00000360615.3:n.2653-259T>C
ENST00000371561.7:c.2805T>C	ENSP00000360616.3:p.His935=
ENST00000473811.1:n.285T>C
NM_000832.6:c.2590-259T>C	NP_000823.4:n.2590-259T>C
NM_001185090.1:c.2764-259T>C	NP_001172019.1:n.2764-259T>C
NM_001185091.1:c.2653-259T>C	NP_001172020.1:n.2653-259T>C
NM_007327.3:c.2805T>C	NP_015566.1:p.His935=
NM_021569.3:c.2694T>C	NP_067544.1:p.His898=
XM_005266071.2:c.2701-259T>C	XP_005266128.1:n.2701-259T>C
XM_005266072.2:c.2757T>C	XP_005266129.1:p.His919=
XM_005266073.3:c.2868T>C	XP_005266130.1:p.His956=
XM_005266071.3:c.2701-259T>C	XP_005266128.1:n.2701-259T>C
XM_005266072.3:c.2757T>C	XP_005266129.1:p.His919=
XM_005266073.4:c.2868T>C	XP_005266130.1:p.His956=
NM_007327.4:c.2805T>C MANE Select	NP_015566.1:p.His935=
NM_000832.7:c.2590-259T>C	NP_000823.4:n.2590-259T>C
NM_001185090.2:c.2764-259T>C	NP_001172019.1:n.2764-259T>C
NM_001185091.2:c.2653-259T>C	NP_001172020.1:n.2653-259T>C
NM_021569.4:c.2694T>C	NP_067544.1:p.His898=