Canonical Allele Identifier: CA1342337439

Gene: ITPR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788043A= , CM000665.2:g.4788043A=	GRCh38
NC_000003.11:g.4829727A= , CM000665.1:g.4829727A=	GRCh37
NC_000003.10:g.4804727A=	NCBI36
NG_016144.1:g.299696A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6723A=	ENSP00000306253.9:n.6723A=
ENST00000354582.12:c.6688A=	ENSP00000346595.8:p.Thr2230=
ENST00000443694.5:c.6667A=	ENSP00000401671.2:p.Thr2223=
ENST00000354582.11:c.6688A=	ENSP00000346595.8:p.Thr2230=
ENST00000357086.10:c.6568A=	ENSP00000349597.4:p.Thr2190=
ENST00000443694.4:c.6667A=	ENSP00000401671.2:p.Thr2223=
ENST00000456211.8:c.6523A=	ENSP00000397885.2:p.Thr2175=
ENST00000481415.2:n.604A=
ENST00000544951.6:c.997-18060A=	ENSP00000440564.1:n.997-18060A=
ENST00000647708.1:c.2611A=
ENST00000647717.1:n.4216A=
ENST00000648016.1:c.3047A=
ENST00000648038.1:c.4474A=	ENSP00000497872.1:p.Thr1492=
ENST00000648212.1:c.3620A=
ENST00000648266.1:c.6685A=	ENSP00000498014.1:p.Thr2229=
ENST00000648309.1:c.6640A=	ENSP00000497026.1:p.Thr2214=
ENST00000648390.1:c.447-58096A=
ENST00000648431.1:c.4014A=
ENST00000648510.1:n.546A=
ENST00000649015.2:c.6712A= MANE Select	ENSP00000497605.1:p.Thr2238=
ENST00000649144.1:n.1760A=
ENST00000649272.1:n.274A=
ENST00000649694.1:n.4197A=
ENST00000650294.1:c.6670A=	ENSP00000498056.1:p.Thr2224=
ENST00000302640.12:c.6667A=	ENSP00000306253.8:p.Thr2223=
ENST00000354582.10:c.6712A=	ENSP00000346595.7:p.Thr2238=
ENST00000357086.9:c.6568A=	ENSP00000349597.4:p.Thr2190=
ENST00000443694.3:c.6667A=	ENSP00000401671.2:p.Thr2223=
ENST00000456211.7:c.6523A=	ENSP00000397885.2:p.Thr2175=
ENST00000544951.5:c.997-18060A=	ENSP00000440564.1:n.997-18060A=
NM_001099952.2:c.6568A=	NP_001093422.2:p.Thr2190=
NM_001168272.1:c.6667A=	NP_001161744.1:p.Thr2223=
NM_002222.5:c.6523A=	NP_002213.5:p.Thr2175=
XM_005265109.2:c.6643A=	XP_005265166.1:p.Thr2215=
XM_005265110.2:c.6595A=	XP_005265167.1:p.Thr2199=
XM_006713131.2:c.6646A=	XP_006713194.1:p.Thr2216=
XM_011533681.1:c.6715A=	XP_011531983.1:p.Thr2239=
XM_011533682.1:c.6715A=	XP_011531984.1:p.Thr2239=
XM_011533683.1:c.6712A=	XP_011531985.1:p.Thr2238=
XM_011533684.1:c.6688A=	XP_011531986.1:p.Thr2230=
XM_011533685.1:c.6682A=	XP_011531987.1:p.Thr2228=
XM_011533686.1:c.6679A=	XP_011531988.1:p.Thr2227=
XM_011533687.1:c.6670A=	XP_011531989.1:p.Thr2224=
XM_011533688.1:c.6643A=	XP_011531990.1:p.Thr2215=
XM_011533689.1:c.6604A=	XP_011531991.1:p.Thr2202=
XM_011533690.1:c.6715A=	XP_011531992.1:p.Thr2239=
XM_005265109.3:c.6643A=	XP_005265166.1:p.Thr2215=
XM_005265110.3:c.6595A=	XP_005265167.1:p.Thr2199=
XM_006713131.3:c.6646A=	XP_006713194.1:p.Thr2216=
XM_011533682.3:c.6715A=	XP_011531984.1:p.Thr2239=
XM_011533683.3:c.6712A=	XP_011531985.1:p.Thr2238=
XM_011533684.2:c.6688A=	XP_011531986.1:p.Thr2230=
XM_011533685.2:c.6682A=	XP_011531987.1:p.Thr2228=
XM_011533686.2:c.6679A=	XP_011531988.1:p.Thr2227=
XM_011533687.2:c.6670A=	XP_011531989.1:p.Thr2224=
XM_011533688.2:c.6643A=	XP_011531990.1:p.Thr2215=
XM_011533690.2:c.6715A=	XP_011531992.1:p.Thr2239=
XM_017006357.2:c.6712A=	XP_016861846.1:p.Thr2238=
NM_001099952.3:c.6568A=	NP_001093422.2:p.Thr2190=
NM_002222.6:c.6523A=	NP_002213.5:p.Thr2175=
NM_001099952.4:c.6568A=	NP_001093422.2:p.Thr2190=
NM_001168272.2:c.6667A=	NP_001161744.1:p.Thr2223=
NM_001378452.1:c.6712A= MANE Select	NP_001365381.1:p.Thr2238=
NM_002222.7:c.6523A=	NP_002213.5:p.Thr2175=