Canonical Allele Identifier: CA2838394022

Gene: ITPR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4795287G>T , CM000665.2:g.4795287G>T	GRCh38
NC_000003.11:g.4836971G>T , CM000665.1:g.4836971G>T	GRCh37
NC_000003.10:g.4811971G>T	NCBI36
NG_016144.1:g.306940G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6942+100G>T	ENSP00000306253.9:n.6942+100G>T
ENST00000354582.12:c.6907+100G>T	ENSP00000346595.8:n.6907+100G>T
ENST00000443694.5:c.6886+100G>T	ENSP00000401671.2:n.6886+100G>T
ENST00000354582.11:c.6907+100G>T	ENSP00000346595.8:n.6907+100G>T
ENST00000357086.10:c.6787+100G>T	ENSP00000349597.4:n.6787+100G>T
ENST00000443694.4:c.6886+100G>T	ENSP00000401671.2:n.6886+100G>T
ENST00000456211.8:c.6742+100G>T	ENSP00000397885.2:n.6742+100G>T
ENST00000467545.6:n.188+100G>T
ENST00000544951.6:c.997-10816G>T	ENSP00000440564.1:n.997-10816G>T
ENST00000647708.1:c.2830+100G>T
ENST00000647717.1:n.4435+100G>T
ENST00000648016.1:c.3266+100G>T
ENST00000648038.1:c.4693+100G>T	ENSP00000497872.1:n.4693+100G>T
ENST00000648212.1:c.3839+100G>T
ENST00000648266.1:c.6904+100G>T	ENSP00000498014.1:n.6904+100G>T
ENST00000648309.1:c.6859+100G>T	ENSP00000497026.1:n.6859+100G>T
ENST00000648390.1:c.447-50852G>T
ENST00000648431.1:c.4111-5138G>T
ENST00000648510.1:n.865G>T
ENST00000649015.2:c.6931+100G>T MANE Select	ENSP00000497605.1:n.6931+100G>T
ENST00000649144.1:n.1979+100G>T
ENST00000649694.1:n.4416+100G>T
ENST00000650294.1:c.6889+100G>T	ENSP00000498056.1:n.6889+100G>T
ENST00000302640.12:c.6886+100G>T	ENSP00000306253.8:n.6886+100G>T
ENST00000354582.10:c.6931+100G>T	ENSP00000346595.7:n.6931+100G>T
ENST00000357086.9:c.6787+100G>T	ENSP00000349597.4:n.6787+100G>T
ENST00000443694.3:c.6886+100G>T	ENSP00000401671.2:n.6886+100G>T
ENST00000456211.7:c.6742+100G>T	ENSP00000397885.2:n.6742+100G>T
ENST00000467545.5:n.188+100G>T
ENST00000544951.5:c.997-10816G>T	ENSP00000440564.1:n.997-10816G>T
NM_001099952.2:c.6787+100G>T	NP_001093422.2:n.6787+100G>T
NM_001168272.1:c.6886+100G>T	NP_001161744.1:n.6886+100G>T
NM_002222.5:c.6742+100G>T	NP_002213.5:n.6742+100G>T
XM_005265109.2:c.6862+100G>T	XP_005265166.1:n.6862+100G>T
XM_005265110.2:c.6814+100G>T	XP_005265167.1:n.6814+100G>T
XM_006713131.2:c.6865+100G>T	XP_006713194.1:n.6865+100G>T
XM_011533681.1:c.6934+100G>T	XP_011531983.1:n.6934+100G>T
XM_011533682.1:c.6934+100G>T	XP_011531984.1:n.6934+100G>T
XM_011533683.1:c.6931+100G>T	XP_011531985.1:n.6931+100G>T
XM_011533684.1:c.6907+100G>T	XP_011531986.1:n.6907+100G>T
XM_011533685.1:c.6901+100G>T	XP_011531987.1:n.6901+100G>T
XM_011533686.1:c.6898+100G>T	XP_011531988.1:n.6898+100G>T
XM_011533687.1:c.6889+100G>T	XP_011531989.1:n.6889+100G>T
XM_011533688.1:c.6862+100G>T	XP_011531990.1:n.6862+100G>T
XM_011533689.1:c.6823+100G>T	XP_011531991.1:n.6823+100G>T
XM_011533690.1:c.6812-5138G>T	XP_011531992.1:n.6812-5138G>T
XM_005265109.3:c.6862+100G>T	XP_005265166.1:n.6862+100G>T
XM_005265110.3:c.6814+100G>T	XP_005265167.1:n.6814+100G>T
XM_006713131.3:c.6865+100G>T	XP_006713194.1:n.6865+100G>T
XM_011533682.3:c.6934+100G>T	XP_011531984.1:n.6934+100G>T
XM_011533683.3:c.6931+100G>T	XP_011531985.1:n.6931+100G>T
XM_011533684.2:c.6907+100G>T	XP_011531986.1:n.6907+100G>T
XM_011533685.2:c.6901+100G>T	XP_011531987.1:n.6901+100G>T
XM_011533686.2:c.6898+100G>T	XP_011531988.1:n.6898+100G>T
XM_011533687.2:c.6889+100G>T	XP_011531989.1:n.6889+100G>T
XM_011533688.2:c.6862+100G>T	XP_011531990.1:n.6862+100G>T
XM_011533690.2:c.6812-5138G>T	XP_011531992.1:n.6812-5138G>T
XM_017006357.2:c.6809-5138G>T	XP_016861846.1:n.6809-5138G>T
NM_001099952.3:c.6787+100G>T	NP_001093422.2:n.6787+100G>T
NM_002222.6:c.6742+100G>T	NP_002213.5:n.6742+100G>T
NM_001099952.4:c.6787+100G>T	NP_001093422.2:n.6787+100G>T
NM_001168272.2:c.6886+100G>T	NP_001161744.1:n.6886+100G>T
NM_001378452.1:c.6931+100G>T MANE Select	NP_001365381.1:n.6931+100G>T
NM_002222.7:c.6742+100G>T	NP_002213.5:n.6742+100G>T