Canonical Allele Identifier: CA375729731

Gene: GRIN1

Linked Data

• gnomAD v4: 9-137167463-C-A
• COSMIC: COSM5587937
• MyVariant Identifiers: chr9:g.140061915C>A (hg19) ; chr9:g.137167463C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137167463C>A , CM000671.2:g.137167463C>A	GRCh38
NC_000009.11:g.140061915C>A , CM000671.1:g.140061915C>A	GRCh37
NC_000009.10:g.139181736C>A	NCBI36
NG_011507.1:g.33307C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371553.8:c.2764-311C>A	ENSP00000360608.3:n.2764-311C>A
ENST00000371560.5:c.2653-311C>A	ENSP00000360615.3:n.2653-311C>A
ENST00000371561.8:c.2753C>A MANE Select	ENSP00000360616.3:p.Pro918Gln
ENST00000371546.8:c.2816C>A	ENSP00000360601.4:p.Pro939Gln
ENST00000371550.8:c.2642C>A	ENSP00000360605.4:p.Pro881Gln
ENST00000371553.7:c.2764-311C>A	ENSP00000360608.3:n.2764-311C>A
ENST00000371555.8:c.2705C>A	ENSP00000360610.4:p.Pro902Gln
ENST00000371559.8:c.2590-311C>A	ENSP00000360614.4:n.2590-311C>A
ENST00000371560.4:c.2653-311C>A	ENSP00000360615.3:n.2653-311C>A
ENST00000371561.7:c.2753C>A	ENSP00000360616.3:p.Pro918Gln
ENST00000473811.1:n.233C>A
NM_000832.6:c.2590-311C>A	NP_000823.4:n.2590-311C>A
NM_001185090.1:c.2764-311C>A	NP_001172019.1:n.2764-311C>A
NM_001185091.1:c.2653-311C>A	NP_001172020.1:n.2653-311C>A
NM_007327.3:c.2753C>A	NP_015566.1:p.Pro918Gln
NM_021569.3:c.2642C>A	NP_067544.1:p.Pro881Gln
XM_005266071.2:c.2701-311C>A	XP_005266128.1:n.2701-311C>A
XM_005266072.2:c.2705C>A	XP_005266129.1:p.Pro902Gln
XM_005266073.3:c.2816C>A	XP_005266130.1:p.Pro939Gln
XM_005266071.3:c.2701-311C>A	XP_005266128.1:n.2701-311C>A
XM_005266072.3:c.2705C>A	XP_005266129.1:p.Pro902Gln
XM_005266073.4:c.2816C>A	XP_005266130.1:p.Pro939Gln
NM_007327.4:c.2753C>A MANE Select	NP_015566.1:p.Pro918Gln
NM_000832.7:c.2590-311C>A	NP_000823.4:n.2590-311C>A
NM_001185090.2:c.2764-311C>A	NP_001172019.1:n.2764-311C>A
NM_001185091.2:c.2653-311C>A	NP_001172020.1:n.2653-311C>A
NM_021569.4:c.2642C>A	NP_067544.1:p.Pro881Gln