Canonical Allele Identifier: CA2231924
Gene: ITPR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 345736
dbSNP Id: rs61757110
gnomAD v2: 3-4735407-C-G
gnomAD v3: 3-4693723-C-G
gnomAD v4: 3-4693723-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4693723C>G , CM000665.2:g.4693723C>G GRCh38
NC_000003.11:g.4735407C>G , CM000665.1:g.4735407C>G GRCh37
NC_000003.10:g.4710407C>G NCBI36
NG_016144.1:g.205376C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000302640.13:c.4236C>G ENSP00000306253.9:p.His1412Gln
ENST00000354582.12:c.4236C>G ENSP00000346595.8:p.His1412Gln
ENST00000443694.5:c.4218C>G ENSP00000401671.2:p.His1406Gln
ENST00000354582.11:c.4236C>G ENSP00000346595.8:p.His1412Gln
ENST00000357086.10:c.4236C>G ENSP00000349597.4:p.His1412Gln
ENST00000443694.4:c.4218C>G ENSP00000401671.2:p.His1406Gln
ENST00000456211.8:c.4191C>G ENSP00000397885.2:p.His1397Gln
ENST00000544951.6:c.996+39837C>G ENSP00000440564.1:n.996+39837C>G
ENST00000647624.1:n.975C>G
ENST00000647673.1:n.255C>G
ENST00000647708.1:c.124C>G
ENST00000647717.1:n.1764C>G
ENST00000648016.1:c.595C>G
ENST00000648038.1:c.2073C>G ENSP00000497872.1:p.His691Gln
ENST00000648212.1:c.1171C>G
ENST00000648266.1:c.4236C>G ENSP00000498014.1:p.His1412Gln
ENST00000648309.1:c.4191C>G ENSP00000497026.1:p.His1397Gln
ENST00000648431.1:c.1565C>G
ENST00000649015.2:c.4263C>G MANE Select ENSP00000497605.1:p.His1421Gln
ENST00000650294.1:c.4218C>G ENSP00000498056.1:p.His1406Gln
ENST00000302640.12:c.4218C>G ENSP00000306253.8:p.His1406Gln
ENST00000354582.10:c.4263C>G ENSP00000346595.7:p.His1421Gln
ENST00000357086.9:c.4236C>G ENSP00000349597.4:p.His1412Gln
ENST00000443694.3:c.4218C>G ENSP00000401671.2:p.His1406Gln
ENST00000456211.7:c.4191C>G ENSP00000397885.2:p.His1397Gln
ENST00000544951.5:c.996+39837C>G ENSP00000440564.1:n.996+39837C>G
NM_001099952.2:c.4236C>G NP_001093422.2:p.His1412Gln
NM_001168272.1:c.4218C>G NP_001161744.1:p.His1406Gln
NM_002222.5:c.4191C>G NP_002213.5:p.His1397Gln
XM_005265109.2:c.4263C>G XP_005265166.1:p.His1421Gln
XM_005265110.2:c.4263C>G XP_005265167.1:p.His1421Gln
XM_006713131.2:c.4263C>G XP_006713194.1:p.His1421Gln
XM_011533681.1:c.4263C>G XP_011531983.1:p.His1421Gln
XM_011533682.1:c.4263C>G XP_011531984.1:p.His1421Gln
XM_011533683.1:c.4263C>G XP_011531985.1:p.His1421Gln
XM_011533684.1:c.4236C>G XP_011531986.1:p.His1412Gln
XM_011533685.1:c.4263C>G XP_011531987.1:p.His1421Gln
XM_011533686.1:c.4263C>G XP_011531988.1:p.His1421Gln
XM_011533687.1:c.4218C>G XP_011531989.1:p.His1406Gln
XM_011533688.1:c.4191C>G XP_011531990.1:p.His1397Gln
XM_011533689.1:c.4263C>G XP_011531991.1:p.His1421Gln
XM_011533690.1:c.4263C>G XP_011531992.1:p.His1421Gln
XM_011533691.1:c.4263C>G XP_011531993.1:p.His1421Gln
XM_011533692.1:c.4263C>G XP_011531994.1:p.His1421Gln
XM_005265109.3:c.4263C>G XP_005265166.1:p.His1421Gln
XM_005265110.3:c.4263C>G XP_005265167.1:p.His1421Gln
XM_006713131.3:c.4263C>G XP_006713194.1:p.His1421Gln
XM_011533682.3:c.4263C>G XP_011531984.1:p.His1421Gln
XM_011533683.3:c.4263C>G XP_011531985.1:p.His1421Gln
XM_011533684.2:c.4236C>G XP_011531986.1:p.His1412Gln
XM_011533685.2:c.4263C>G XP_011531987.1:p.His1421Gln
XM_011533686.2:c.4263C>G XP_011531988.1:p.His1421Gln
XM_011533687.2:c.4218C>G XP_011531989.1:p.His1406Gln
XM_011533688.2:c.4191C>G XP_011531990.1:p.His1397Gln
XM_011533690.2:c.4263C>G XP_011531992.1:p.His1421Gln
XM_011533692.2:c.4263C>G XP_011531994.1:p.His1421Gln
XM_017006357.2:c.4263C>G XP_016861846.1:p.His1421Gln
XM_017006358.1:c.4263C>G XP_016861847.1:p.His1421Gln
NM_001099952.3:c.4236C>G NP_001093422.2:p.His1412Gln
NM_002222.6:c.4191C>G NP_002213.5:p.His1397Gln
NM_001099952.4:c.4236C>G NP_001093422.2:p.His1412Gln
NM_001168272.2:c.4218C>G NP_001161744.1:p.His1406Gln
NM_001378452.1:c.4263C>G MANE Select NP_001365381.1:p.His1421Gln
NM_002222.7:c.4191C>G NP_002213.5:p.His1397Gln