Canonical Allele Identifier: CA130665

Gene: GRIA1

Linked Data

• ClinVar Variation Id: 39966
• ClinVar RCV Id: RCV001269688 ; RCV001420360 ; RCV002260601
• dbSNP Id: rs587776937
• COSMIC: COSM3697084 ; COSM3697085 ; COSM5830079
• MyVariant Identifiers: chr5:g.153144076G>A (hg19) ; chr5:g.153764516G>A (hg38)
• PubMed: PMID:23033978 ; PMID:25363760

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.153764516G>A , CM000667.2:g.153764516G>A	GRCh38
NC_000005.9:g.153144076G>A , CM000667.1:g.153144076G>A	GRCh37
NC_000005.8:g.153124269G>A	NCBI36
NG_047078.1:g.279821G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340592.10:c.1906G>A	ENSP00000339343.5:p.Ala636Thr
ENST00000706733.1:c.1906G>A	ENSP00000516520.1:p.Ala636Thr
ENST00000706734.1:c.1933G>A	ENSP00000516521.1:p.Ala645Thr
ENST00000285900.10:c.1906G>A MANE Select	ENSP00000285900.4:p.Ala636Thr
ENST00000285900.9:c.1906G>A	ENSP00000285900.4:p.Ala636Thr
ENST00000340592.9:c.1906G>A	ENSP00000339343.5:p.Ala636Thr
ENST00000448073.8:c.1936G>A	ENSP00000415569.2:p.Ala646Thr
ENST00000518142.5:c.1666G>A	ENSP00000427920.1:p.Ala556Thr
ENST00000518783.1:c.1936G>A	ENSP00000428994.1:p.Ala646Thr
ENST00000521843.6:c.1699G>A	ENSP00000427864.2:p.Ala567Thr
NM_000827.3:c.1906G>A	NP_000818.2:p.Ala636Thr
NM_001114183.1:c.1906G>A	NP_001107655.1:p.Ala636Thr
NM_001258019.1:c.1666G>A	NP_001244948.1:p.Ala556Thr
NM_001258020.1:c.1621G>A	NP_001244949.1:p.Ala541Thr
NM_001258021.1:c.1936G>A	NP_001244950.1:p.Ala646Thr
NM_001258022.1:c.1936G>A	NP_001244951.1:p.Ala646Thr
NM_001258023.1:c.1699G>A	NP_001244952.1:p.Ala567Thr
NR_047578.1:n.2133G>A
XM_011537635.1:c.1846G>A	XP_011535937.1:p.Ala616Thr
XR_427776.2:n.2176G>A
NM_001364165.1:c.1738G>A	NP_001351094.1:p.Ala580Thr
NM_001364166.1:c.1933G>A	NP_001351095.1:p.Ala645Thr
NM_001364167.1:c.1699G>A	NP_001351096.1:p.Ala567Thr
NR_157093.1:n.2125G>A
XM_017009392.1:c.1936G>A	XP_016864881.1:p.Ala646Thr
NM_000827.4:c.1906G>A MANE Select	NP_000818.2:p.Ala636Thr
NM_001114183.2:c.1906G>A	NP_001107655.1:p.Ala636Thr
NM_001258019.2:c.1666G>A	NP_001244948.1:p.Ala556Thr
NM_001258020.2:c.1621G>A	NP_001244949.1:p.Ala541Thr
NM_001258021.2:c.1936G>A	NP_001244950.1:p.Ala646Thr
NM_001258022.2:c.1936G>A	NP_001244951.1:p.Ala646Thr
NM_001364165.2:c.1738G>A	NP_001351094.1:p.Ala580Thr
NM_001364166.2:c.1933G>A	NP_001351095.1:p.Ala645Thr
NM_001364167.2:c.1699G>A	NP_001351096.1:p.Ala567Thr
NR_047578.2:n.1987G>A
NR_157093.2:n.2125G>A