Canonical Allele Identifier: CA10581497
Gene: ITPR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 235921
ClinVar RCV Id: RCV000224992
dbSNP Id: rs878853177

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4779584A>G , CM000665.2:g.4779584A>G GRCh38
NC_000003.11:g.4821268A>G , CM000665.1:g.4821268A>G GRCh37
NC_000003.10:g.4796268A>G NCBI36
NG_016144.1:g.291237A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000302640.13:c.6337A>G ENSP00000306253.9:n.6337A>G
ENST00000354582.12:c.6302A>G ENSP00000346595.8:p.Glu2101Gly
ENST00000443694.5:c.6281A>G ENSP00000401671.2:p.Glu2094Gly
ENST00000354582.11:c.6302A>G ENSP00000346595.8:p.Glu2101Gly
ENST00000357086.10:c.6182A>G ENSP00000349597.4:p.Glu2061Gly
ENST00000443694.4:c.6281A>G ENSP00000401671.2:p.Glu2094Gly
ENST00000456211.8:c.6137A>G ENSP00000397885.2:p.Glu2046Gly
ENST00000544951.6:c.997-26519A>G ENSP00000440564.1:n.997-26519A>G
ENST00000647708.1:c.2225A>G
ENST00000647717.1:n.3830A>G
ENST00000648016.1:c.2661A>G
ENST00000648038.1:c.4088A>G ENSP00000497872.1:p.Glu1363Gly
ENST00000648212.1:c.3234A>G
ENST00000648266.1:c.6299A>G ENSP00000498014.1:p.Glu2100Gly
ENST00000648309.1:c.6254A>G ENSP00000497026.1:p.Glu2085Gly
ENST00000648390.1:c.447-66555A>G
ENST00000648431.1:c.3628A>G
ENST00000648510.1:n.160A>G
ENST00000649015.2:c.6326A>G MANE Select ENSP00000497605.1:p.Glu2109Gly
ENST00000649144.1:n.1374A>G
ENST00000649694.1:n.3811A>G
ENST00000650294.1:c.6284A>G ENSP00000498056.1:p.Glu2095Gly
ENST00000302640.12:c.6281A>G ENSP00000306253.8:p.Glu2094Gly
ENST00000354582.10:c.6326A>G ENSP00000346595.7:p.Glu2109Gly
ENST00000357086.9:c.6182A>G ENSP00000349597.4:p.Glu2061Gly
ENST00000443694.3:c.6281A>G ENSP00000401671.2:p.Glu2094Gly
ENST00000456211.7:c.6137A>G ENSP00000397885.2:p.Glu2046Gly
ENST00000544951.5:c.997-26519A>G ENSP00000440564.1:n.997-26519A>G
NM_001099952.2:c.6182A>G NP_001093422.2:p.Glu2061Gly
NM_001168272.1:c.6281A>G NP_001161744.1:p.Glu2094Gly
NM_002222.5:c.6137A>G NP_002213.5:p.Glu2046Gly
XM_005265109.2:c.6257A>G XP_005265166.1:p.Glu2086Gly
XM_005265110.2:c.6209A>G XP_005265167.1:p.Glu2070Gly
XM_006713131.2:c.6260A>G XP_006713194.1:p.Glu2087Gly
XM_011533681.1:c.6329A>G XP_011531983.1:p.Glu2110Gly
XM_011533682.1:c.6329A>G XP_011531984.1:p.Glu2110Gly
XM_011533683.1:c.6326A>G XP_011531985.1:p.Glu2109Gly
XM_011533684.1:c.6302A>G XP_011531986.1:p.Glu2101Gly
XM_011533685.1:c.6296A>G XP_011531987.1:p.Glu2099Gly
XM_011533686.1:c.6293A>G XP_011531988.1:p.Glu2098Gly
XM_011533687.1:c.6284A>G XP_011531989.1:p.Glu2095Gly
XM_011533688.1:c.6257A>G XP_011531990.1:p.Glu2086Gly
XM_011533689.1:c.6218A>G XP_011531991.1:p.Glu2073Gly
XM_011533690.1:c.6329A>G XP_011531992.1:p.Glu2110Gly
XM_005265109.3:c.6257A>G XP_005265166.1:p.Glu2086Gly
XM_005265110.3:c.6209A>G XP_005265167.1:p.Glu2070Gly
XM_006713131.3:c.6260A>G XP_006713194.1:p.Glu2087Gly
XM_011533682.3:c.6329A>G XP_011531984.1:p.Glu2110Gly
XM_011533683.3:c.6326A>G XP_011531985.1:p.Glu2109Gly
XM_011533684.2:c.6302A>G XP_011531986.1:p.Glu2101Gly
XM_011533685.2:c.6296A>G XP_011531987.1:p.Glu2099Gly
XM_011533686.2:c.6293A>G XP_011531988.1:p.Glu2098Gly
XM_011533687.2:c.6284A>G XP_011531989.1:p.Glu2095Gly
XM_011533688.2:c.6257A>G XP_011531990.1:p.Glu2086Gly
XM_011533690.2:c.6329A>G XP_011531992.1:p.Glu2110Gly
XM_017006357.2:c.6326A>G XP_016861846.1:p.Glu2109Gly
NM_001099952.3:c.6182A>G NP_001093422.2:p.Glu2061Gly
NM_002222.6:c.6137A>G NP_002213.5:p.Glu2046Gly
NM_001099952.4:c.6182A>G NP_001093422.2:p.Glu2061Gly
NM_001168272.2:c.6281A>G NP_001161744.1:p.Glu2094Gly
NM_001378452.1:c.6326A>G MANE Select NP_001365381.1:p.Glu2109Gly
NM_002222.7:c.6137A>G NP_002213.5:p.Glu2046Gly