Canonical Allele Identifier: CA362003571

Gene: GRIA1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.153794699C>G , CM000667.2:g.153794699C>G	GRCh38
NC_000005.9:g.153174259C>G , CM000667.1:g.153174259C>G	GRCh37
NC_000005.8:g.153154452C>G	NCBI36
NG_047078.1:g.310004C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000827.4:c.2349C>G MANE Select	NP_000818.2:p.Asp783Glu
ENST00000285900.10:c.2349C>G MANE Select	ENSP00000285900.4:p.Asp783Glu
NM_000827.3:c.2349C>G	NP_000818.2:p.Asp783Glu
NM_001114183.1:c.2271-777C>G	NP_001107655.1:n.2271-777C>G
NM_001114183.2:c.2271-777C>G	NP_001107655.1:n.2271-777C>G
NM_001258019.1:c.2109C>G	NP_001244948.1:p.Asp703Glu
NM_001258019.2:c.2109C>G	NP_001244948.1:p.Asp703Glu
NM_001258020.1:c.1986-777C>G	NP_001244949.1:n.1986-777C>G
NM_001258020.2:c.1986-777C>G	NP_001244949.1:n.1986-777C>G
NM_001258021.1:c.2379C>G	NP_001244950.1:p.Asp793Glu
NM_001258021.2:c.2379C>G	NP_001244950.1:p.Asp793Glu
NM_001258022.1:c.2301-777C>G	NP_001244951.1:n.2301-777C>G
NM_001258022.2:c.2301-777C>G	NP_001244951.1:n.2301-777C>G
NM_001258023.1:c.2142C>G	NP_001244952.1:p.Asp714Glu
NM_001364165.1:c.2181C>G	NP_001351094.1:p.Asp727Glu
NM_001364165.2:c.2181C>G	NP_001351094.1:p.Asp727Glu
NM_001364166.1:c.2298-777C>G	NP_001351095.1:n.2298-777C>G
NM_001364166.2:c.2298-777C>G	NP_001351095.1:n.2298-777C>G
NM_001364167.1:c.2064-777C>G	NP_001351096.1:n.2064-777C>G
NM_001364167.2:c.2064-777C>G	NP_001351096.1:n.2064-777C>G
NR_047578.1:n.2498-7657C>G
NR_047578.2:n.2352-7657C>G
NR_157093.1:n.2568C>G
NR_157093.2:n.2568C>G
ENST00000285900.9:c.2349C>G	ENSP00000285900.4:p.Asp783Glu
ENST00000340592.10:c.2271-777C>G	ENSP00000339343.5:n.2271-777C>G
ENST00000340592.9:c.2271-777C>G	ENSP00000339343.5:n.2271-777C>G
ENST00000448073.8:c.2301-777C>G	ENSP00000415569.2:n.2301-777C>G
ENST00000518142.5:c.2109C>G	ENSP00000427920.1:p.Asp703Glu
ENST00000518783.1:c.2379C>G	ENSP00000428994.1:p.Asp793Glu
ENST00000521843.6:c.2142C>G	ENSP00000427864.2:p.Asp714Glu
ENST00000706733.1:c.2349C>G	ENSP00000516520.1:p.Asp783Glu
ENST00000706734.1:c.2298-777C>G	ENSP00000516521.1:n.2298-777C>G
XM_011537635.1:c.2211-777C>G	XP_011535937.1:n.2211-777C>G
XM_017009392.1:c.2379C>G	XP_016864881.1:p.Asp793Glu
XR_427776.2:n.2541-7657C>G