Canonical Allele Identifier: CA1342337444

Gene: ITPR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788051G= , CM000665.2:g.4788051G=	GRCh38
NC_000003.11:g.4829735G= , CM000665.1:g.4829735G=	GRCh37
NC_000003.10:g.4804735G=	NCBI36
NG_016144.1:g.299704G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000302640.13:c.6731G=	ENSP00000306253.9:n.6731G=
ENST00000354582.12:c.6696G=	ENSP00000346595.8:p.Glu2232=
ENST00000443694.5:c.6675G=	ENSP00000401671.2:p.Glu2225=
ENST00000354582.11:c.6696G=	ENSP00000346595.8:p.Glu2232=
ENST00000357086.10:c.6576G=	ENSP00000349597.4:p.Glu2192=
ENST00000443694.4:c.6675G=	ENSP00000401671.2:p.Glu2225=
ENST00000456211.8:c.6531G=	ENSP00000397885.2:p.Glu2177=
ENST00000481415.2:n.612G=
ENST00000544951.6:c.997-18052G=	ENSP00000440564.1:n.997-18052G=
ENST00000647708.1:c.2619G=
ENST00000647717.1:n.4224G=
ENST00000648016.1:c.3055G=
ENST00000648038.1:c.4482G=	ENSP00000497872.1:p.Glu1494=
ENST00000648212.1:c.3628G=
ENST00000648266.1:c.6693G=	ENSP00000498014.1:p.Glu2231=
ENST00000648309.1:c.6648G=	ENSP00000497026.1:p.Glu2216=
ENST00000648390.1:c.447-58088G=
ENST00000648431.1:c.4022G=
ENST00000648510.1:n.554G=
ENST00000649015.2:c.6720G= MANE Select	ENSP00000497605.1:p.Glu2240=
ENST00000649144.1:n.1768G=
ENST00000649272.1:n.282G=
ENST00000649694.1:n.4205G=
ENST00000650294.1:c.6678G=	ENSP00000498056.1:p.Glu2226=
ENST00000302640.12:c.6675G=	ENSP00000306253.8:p.Glu2225=
ENST00000354582.10:c.6720G=	ENSP00000346595.7:p.Glu2240=
ENST00000357086.9:c.6576G=	ENSP00000349597.4:p.Glu2192=
ENST00000443694.3:c.6675G=	ENSP00000401671.2:p.Glu2225=
ENST00000456211.7:c.6531G=	ENSP00000397885.2:p.Glu2177=
ENST00000544951.5:c.997-18052G=	ENSP00000440564.1:n.997-18052G=
NM_001099952.2:c.6576G=	NP_001093422.2:p.Glu2192=
NM_001168272.1:c.6675G=	NP_001161744.1:p.Glu2225=
NM_002222.5:c.6531G=	NP_002213.5:p.Glu2177=
XM_005265109.2:c.6651G=	XP_005265166.1:p.Glu2217=
XM_005265110.2:c.6603G=	XP_005265167.1:p.Glu2201=
XM_006713131.2:c.6654G=	XP_006713194.1:p.Glu2218=
XM_011533681.1:c.6723G=	XP_011531983.1:p.Glu2241=
XM_011533682.1:c.6723G=	XP_011531984.1:p.Glu2241=
XM_011533683.1:c.6720G=	XP_011531985.1:p.Glu2240=
XM_011533684.1:c.6696G=	XP_011531986.1:p.Glu2232=
XM_011533685.1:c.6690G=	XP_011531987.1:p.Glu2230=
XM_011533686.1:c.6687G=	XP_011531988.1:p.Glu2229=
XM_011533687.1:c.6678G=	XP_011531989.1:p.Glu2226=
XM_011533688.1:c.6651G=	XP_011531990.1:p.Glu2217=
XM_011533689.1:c.6612G=	XP_011531991.1:p.Glu2204=
XM_011533690.1:c.6723G=	XP_011531992.1:p.Glu2241=
XM_005265109.3:c.6651G=	XP_005265166.1:p.Glu2217=
XM_005265110.3:c.6603G=	XP_005265167.1:p.Glu2201=
XM_006713131.3:c.6654G=	XP_006713194.1:p.Glu2218=
XM_011533682.3:c.6723G=	XP_011531984.1:p.Glu2241=
XM_011533683.3:c.6720G=	XP_011531985.1:p.Glu2240=
XM_011533684.2:c.6696G=	XP_011531986.1:p.Glu2232=
XM_011533685.2:c.6690G=	XP_011531987.1:p.Glu2230=
XM_011533686.2:c.6687G=	XP_011531988.1:p.Glu2229=
XM_011533687.2:c.6678G=	XP_011531989.1:p.Glu2226=
XM_011533688.2:c.6651G=	XP_011531990.1:p.Glu2217=
XM_011533690.2:c.6723G=	XP_011531992.1:p.Glu2241=
XM_017006357.2:c.6720G=	XP_016861846.1:p.Glu2240=
NM_001099952.3:c.6576G=	NP_001093422.2:p.Glu2192=
NM_002222.6:c.6531G=	NP_002213.5:p.Glu2177=
NM_001099952.4:c.6576G=	NP_001093422.2:p.Glu2192=
NM_001168272.2:c.6675G=	NP_001161744.1:p.Glu2225=
NM_001378452.1:c.6720G= MANE Select	NP_001365381.1:p.Glu2240=
NM_002222.7:c.6531G=	NP_002213.5:p.Glu2177=