Canonical Allele Identifier: CA375729589

Gene: GRIN1

Linked Data

• dbSNP Id: rs200007767
• gnomAD v2: 9-140061878-C-T
• gnomAD v4: 9-137167426-C-T
• MyVariant Identifiers: chr9:g.140061878C>T (hg19) ; chr9:g.137167426C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137167426C>T , CM000671.2:g.137167426C>T	GRCh38
NC_000009.11:g.140061878C>T , CM000671.1:g.140061878C>T	GRCh37
NC_000009.10:g.139181699C>T	NCBI36
NG_011507.1:g.33270C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371553.8:c.2764-348C>T	ENSP00000360608.3:n.2764-348C>T
ENST00000371560.5:c.2653-348C>T	ENSP00000360615.3:n.2653-348C>T
ENST00000371561.8:c.2716C>T MANE Select	ENSP00000360616.3:p.Arg906Cys
ENST00000371546.8:c.2779C>T	ENSP00000360601.4:p.Arg927Cys
ENST00000371550.8:c.2605C>T	ENSP00000360605.4:p.Arg869Cys
ENST00000371553.7:c.2764-348C>T	ENSP00000360608.3:n.2764-348C>T
ENST00000371555.8:c.2668C>T	ENSP00000360610.4:p.Arg890Cys
ENST00000371559.8:c.2590-348C>T	ENSP00000360614.4:n.2590-348C>T
ENST00000371560.4:c.2653-348C>T	ENSP00000360615.3:n.2653-348C>T
ENST00000371561.7:c.2716C>T	ENSP00000360616.3:p.Arg906Cys
ENST00000473811.1:n.196C>T
NM_000832.6:c.2590-348C>T	NP_000823.4:n.2590-348C>T
NM_001185090.1:c.2764-348C>T	NP_001172019.1:n.2764-348C>T
NM_001185091.1:c.2653-348C>T	NP_001172020.1:n.2653-348C>T
NM_007327.3:c.2716C>T	NP_015566.1:p.Arg906Cys
NM_021569.3:c.2605C>T	NP_067544.1:p.Arg869Cys
XM_005266071.2:c.2701-348C>T	XP_005266128.1:n.2701-348C>T
XM_005266072.2:c.2668C>T	XP_005266129.1:p.Arg890Cys
XM_005266073.3:c.2779C>T	XP_005266130.1:p.Arg927Cys
XM_005266071.3:c.2701-348C>T	XP_005266128.1:n.2701-348C>T
XM_005266072.3:c.2668C>T	XP_005266129.1:p.Arg890Cys
XM_005266073.4:c.2779C>T	XP_005266130.1:p.Arg927Cys
NM_007327.4:c.2716C>T MANE Select	NP_015566.1:p.Arg906Cys
NM_000832.7:c.2590-348C>T	NP_000823.4:n.2590-348C>T
NM_001185090.2:c.2764-348C>T	NP_001172019.1:n.2764-348C>T
NM_001185091.2:c.2653-348C>T	NP_001172020.1:n.2653-348C>T
NM_021569.4:c.2605C>T	NP_067544.1:p.Arg869Cys