Canonical Allele Identifier: CA1342337422
Gene: ITPR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4787989G= , CM000665.2:g.4787989G= GRCh38
NC_000003.11:g.4829673G= , CM000665.1:g.4829673G= GRCh37
NC_000003.10:g.4804673G= NCBI36
NG_016144.1:g.299642G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000302640.13:c.6669G= ENSP00000306253.9:n.6669G=
ENST00000354582.12:c.6634G= ENSP00000346595.8:p.Val2212=
ENST00000443694.5:c.6613G= ENSP00000401671.2:p.Val2205=
ENST00000354582.11:c.6634G= ENSP00000346595.8:p.Val2212=
ENST00000357086.10:c.6514G= ENSP00000349597.4:p.Val2172=
ENST00000443694.4:c.6613G= ENSP00000401671.2:p.Val2205=
ENST00000456211.8:c.6469G= ENSP00000397885.2:p.Val2157=
ENST00000481415.2:n.550G=
ENST00000544951.6:c.997-18114G= ENSP00000440564.1:n.997-18114G=
ENST00000647708.1:c.2557G=
ENST00000647717.1:n.4162G=
ENST00000648016.1:c.2993G=
ENST00000648038.1:c.4420G= ENSP00000497872.1:p.Val1474=
ENST00000648212.1:c.3566G=
ENST00000648266.1:c.6631G= ENSP00000498014.1:p.Val2211=
ENST00000648309.1:c.6586G= ENSP00000497026.1:p.Val2196=
ENST00000648390.1:c.447-58150G=
ENST00000648431.1:c.3960G=
ENST00000648510.1:n.492G=
ENST00000649015.2:c.6658G= MANE Select ENSP00000497605.1:p.Val2220=
ENST00000649144.1:n.1706G=
ENST00000649272.1:n.220G=
ENST00000649694.1:n.4143G=
ENST00000650294.1:c.6616G= ENSP00000498056.1:p.Val2206=
ENST00000302640.12:c.6613G= ENSP00000306253.8:p.Val2205=
ENST00000354582.10:c.6658G= ENSP00000346595.7:p.Val2220=
ENST00000357086.9:c.6514G= ENSP00000349597.4:p.Val2172=
ENST00000443694.3:c.6613G= ENSP00000401671.2:p.Val2205=
ENST00000456211.7:c.6469G= ENSP00000397885.2:p.Val2157=
ENST00000481415.1:n.550G=
ENST00000544951.5:c.997-18114G= ENSP00000440564.1:n.997-18114G=
NM_001099952.2:c.6514G= NP_001093422.2:p.Val2172=
NM_001168272.1:c.6613G= NP_001161744.1:p.Val2205=
NM_002222.5:c.6469G= NP_002213.5:p.Val2157=
XM_005265109.2:c.6589G= XP_005265166.1:p.Val2197=
XM_005265110.2:c.6541G= XP_005265167.1:p.Val2181=
XM_006713131.2:c.6592G= XP_006713194.1:p.Val2198=
XM_011533681.1:c.6661G= XP_011531983.1:p.Val2221=
XM_011533682.1:c.6661G= XP_011531984.1:p.Val2221=
XM_011533683.1:c.6658G= XP_011531985.1:p.Val2220=
XM_011533684.1:c.6634G= XP_011531986.1:p.Val2212=
XM_011533685.1:c.6628G= XP_011531987.1:p.Val2210=
XM_011533686.1:c.6625G= XP_011531988.1:p.Val2209=
XM_011533687.1:c.6616G= XP_011531989.1:p.Val2206=
XM_011533688.1:c.6589G= XP_011531990.1:p.Val2197=
XM_011533689.1:c.6550G= XP_011531991.1:p.Val2184=
XM_011533690.1:c.6661G= XP_011531992.1:p.Val2221=
XM_005265109.3:c.6589G= XP_005265166.1:p.Val2197=
XM_005265110.3:c.6541G= XP_005265167.1:p.Val2181=
XM_006713131.3:c.6592G= XP_006713194.1:p.Val2198=
XM_011533682.3:c.6661G= XP_011531984.1:p.Val2221=
XM_011533683.3:c.6658G= XP_011531985.1:p.Val2220=
XM_011533684.2:c.6634G= XP_011531986.1:p.Val2212=
XM_011533685.2:c.6628G= XP_011531987.1:p.Val2210=
XM_011533686.2:c.6625G= XP_011531988.1:p.Val2209=
XM_011533687.2:c.6616G= XP_011531989.1:p.Val2206=
XM_011533688.2:c.6589G= XP_011531990.1:p.Val2197=
XM_011533690.2:c.6661G= XP_011531992.1:p.Val2221=
XM_017006357.2:c.6658G= XP_016861846.1:p.Val2220=
NM_001099952.3:c.6514G= NP_001093422.2:p.Val2172=
NM_002222.6:c.6469G= NP_002213.5:p.Val2157=
NM_001099952.4:c.6514G= NP_001093422.2:p.Val2172=
NM_001168272.2:c.6613G= NP_001161744.1:p.Val2205=
NM_001378452.1:c.6658G= MANE Select NP_001365381.1:p.Val2220=
NM_002222.7:c.6469G= NP_002213.5:p.Val2157=