Canonical Allele Identifier: CA1342337455

Gene: ITPR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788092G= , CM000665.2:g.4788092G=	GRCh38
NC_000003.11:g.4829776G= , CM000665.1:g.4829776G=	GRCh37
NC_000003.10:g.4804776G=	NCBI36
NG_016144.1:g.299745G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6772G=	ENSP00000306253.9:n.6772G=
ENST00000354582.12:c.6737G=	ENSP00000346595.8:p.Arg2246=
ENST00000443694.5:c.6716G=	ENSP00000401671.2:p.Arg2239=
ENST00000354582.11:c.6737G=	ENSP00000346595.8:p.Arg2246=
ENST00000357086.10:c.6617G=	ENSP00000349597.4:p.Arg2206=
ENST00000443694.4:c.6716G=	ENSP00000401671.2:p.Arg2239=
ENST00000456211.8:c.6572G=	ENSP00000397885.2:p.Arg2191=
ENST00000481415.2:n.653G=
ENST00000544951.6:c.997-18011G=	ENSP00000440564.1:n.997-18011G=
ENST00000647708.1:c.2660G=
ENST00000647717.1:n.4265G=
ENST00000648016.1:c.3096G=
ENST00000648038.1:c.4523G=	ENSP00000497872.1:p.Arg1508=
ENST00000648212.1:c.3669G=
ENST00000648266.1:c.6734G=	ENSP00000498014.1:p.Arg2245=
ENST00000648309.1:c.6689G=	ENSP00000497026.1:p.Arg2230=
ENST00000648390.1:c.447-58047G=
ENST00000648431.1:c.4063G=
ENST00000648510.1:n.595G=
ENST00000649015.2:c.6761G= MANE Select	ENSP00000497605.1:p.Arg2254=
ENST00000649144.1:n.1809G=
ENST00000649272.1:n.323G=
ENST00000649694.1:n.4246G=
ENST00000650294.1:c.6719G=	ENSP00000498056.1:p.Arg2240=
ENST00000302640.12:c.6716G=	ENSP00000306253.8:p.Arg2239=
ENST00000354582.10:c.6761G=	ENSP00000346595.7:p.Arg2254=
ENST00000357086.9:c.6617G=	ENSP00000349597.4:p.Arg2206=
ENST00000443694.3:c.6716G=	ENSP00000401671.2:p.Arg2239=
ENST00000456211.7:c.6572G=	ENSP00000397885.2:p.Arg2191=
ENST00000544951.5:c.997-18011G=	ENSP00000440564.1:n.997-18011G=
NM_001099952.2:c.6617G=	NP_001093422.2:p.Arg2206=
NM_001168272.1:c.6716G=	NP_001161744.1:p.Arg2239=
NM_002222.5:c.6572G=	NP_002213.5:p.Arg2191=
XM_005265109.2:c.6692G=	XP_005265166.1:p.Arg2231=
XM_005265110.2:c.6644G=	XP_005265167.1:p.Arg2215=
XM_006713131.2:c.6695G=	XP_006713194.1:p.Arg2232=
XM_011533681.1:c.6764G=	XP_011531983.1:p.Arg2255=
XM_011533682.1:c.6764G=	XP_011531984.1:p.Arg2255=
XM_011533683.1:c.6761G=	XP_011531985.1:p.Arg2254=
XM_011533684.1:c.6737G=	XP_011531986.1:p.Arg2246=
XM_011533685.1:c.6731G=	XP_011531987.1:p.Arg2244=
XM_011533686.1:c.6728G=	XP_011531988.1:p.Arg2243=
XM_011533687.1:c.6719G=	XP_011531989.1:p.Arg2240=
XM_011533688.1:c.6692G=	XP_011531990.1:p.Arg2231=
XM_011533689.1:c.6653G=	XP_011531991.1:p.Arg2218=
XM_011533690.1:c.6764G=	XP_011531992.1:p.Arg2255=
XM_005265109.3:c.6692G=	XP_005265166.1:p.Arg2231=
XM_005265110.3:c.6644G=	XP_005265167.1:p.Arg2215=
XM_006713131.3:c.6695G=	XP_006713194.1:p.Arg2232=
XM_011533682.3:c.6764G=	XP_011531984.1:p.Arg2255=
XM_011533683.3:c.6761G=	XP_011531985.1:p.Arg2254=
XM_011533684.2:c.6737G=	XP_011531986.1:p.Arg2246=
XM_011533685.2:c.6731G=	XP_011531987.1:p.Arg2244=
XM_011533686.2:c.6728G=	XP_011531988.1:p.Arg2243=
XM_011533687.2:c.6719G=	XP_011531989.1:p.Arg2240=
XM_011533688.2:c.6692G=	XP_011531990.1:p.Arg2231=
XM_011533690.2:c.6764G=	XP_011531992.1:p.Arg2255=
XM_017006357.2:c.6761G=	XP_016861846.1:p.Arg2254=
NM_001099952.3:c.6617G=	NP_001093422.2:p.Arg2206=
NM_002222.6:c.6572G=	NP_002213.5:p.Arg2191=
NM_001099952.4:c.6617G=	NP_001093422.2:p.Arg2206=
NM_001168272.2:c.6716G=	NP_001161744.1:p.Arg2239=
NM_001378452.1:c.6761G= MANE Select	NP_001365381.1:p.Arg2254=
NM_002222.7:c.6572G=	NP_002213.5:p.Arg2191=