Canonical Allele Identifier: CA153219
Gene: ITPR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 129301
dbSNP Id: rs13079522

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4788048A>G , CM000665.2:g.4788048A>G GRCh38
NC_000003.11:g.4829732A>G , CM000665.1:g.4829732A>G GRCh37
NC_000003.10:g.4804732A>G NCBI36
NG_016144.1:g.299701A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000354582.11:c.6693A>G ENSP00000346595.8:p.Thr2231=
ENST00000357086.10:c.6573A>G ENSP00000349597.4:p.Thr2191=
ENST00000443694.4:n.6672A>G ENSP00000401671.2:p.Thr2224=
ENST00000456211.8:c.6528A>G ENSP00000397885.2:p.Thr2176=
ENST00000481415.2:n.609A>G
ENST00000544951.6:c.997-18055A>G ENSP00000440564.1:p.=
ENST00000647708.1:n.2616A>G
ENST00000647717.1:n.4221A>G
ENST00000648016.1:n.3052A>G
ENST00000648038.1:n.4479A>G ENSP00000497872.1:p.Thr1493=
ENST00000648212.1:n.3625A>G
ENST00000648266.1:c.6690A>G ENSP00000498014.1:p.Thr2230=
ENST00000648309.1:c.6645A>G ENSP00000497026.1:p.Thr2215=
ENST00000648390.1:n.447-58091A>G
ENST00000648431.1:n.4019A>G
ENST00000648510.1:n.551A>G
ENST00000649015.2:c.6717A>G MANE Select ENSP00000497605.1:p.Thr2239=
ENST00000649144.1:n.1765A>G
ENST00000649272.1:n.279A>G
ENST00000649694.1:n.4202A>G
ENST00000650294.1:c.6675A>G ENSP00000498056.1:p.Thr2225=
ENST00000302640.12:c.6672A>G ENSP00000306253.8:p.Thr2224=
ENST00000354582.10:c.6717A>G ENSP00000346595.7:p.Thr2239=
ENST00000357086.9:c.6573A>G ENSP00000349597.4:p.Thr2191=
ENST00000443694.3:n.6672A>G ENSP00000401671.2:p.Thr2224=
ENST00000456211.7:c.6528A>G ENSP00000397885.2:p.Thr2176=
ENST00000544951.5:c.997-18055A>G ENSP00000440564.1:p.=
NM_001099952.2:c.6573A>G NP_001093422.2:p.Thr2191=
NM_001168272.1:c.6672A>G NP_001161744.1:p.Thr2224=
NM_002222.5:c.6528A>G NP_002213.5:p.Thr2176=
XM_005265109.2:c.6648A>G XP_005265166.1:p.Thr2216=
XM_005265110.2:c.6600A>G XP_005265167.1:p.Thr2200=
XM_006713131.2:c.6651A>G XP_006713194.1:p.Thr2217=
XM_011533681.1:c.6720A>G XP_011531983.1:p.Thr2240=
XM_011533682.1:c.6720A>G XP_011531984.1:p.Thr2240=
XM_011533683.1:c.6717A>G XP_011531985.1:p.Thr2239=
XM_011533684.1:c.6693A>G XP_011531986.1:p.Thr2231=
XM_011533685.1:c.6687A>G XP_011531987.1:p.Thr2229=
XM_011533686.1:c.6684A>G XP_011531988.1:p.Thr2228=
XM_011533687.1:c.6675A>G XP_011531989.1:p.Thr2225=
XM_011533688.1:c.6648A>G XP_011531990.1:p.Thr2216=
XM_011533689.1:c.6609A>G XP_011531991.1:p.Thr2203=
XM_011533690.1:c.6720A>G XP_011531992.1:p.Thr2240=
XM_005265109.3:c.6648A>G XP_005265166.1:p.Thr2216=
XM_005265110.3:c.6600A>G XP_005265167.1:p.Thr2200=
XM_006713131.3:c.6651A>G XP_006713194.1:p.Thr2217=
XM_011533682.3:c.6720A>G XP_011531984.1:p.Thr2240=
XM_011533683.3:c.6717A>G XP_011531985.1:p.Thr2239=
XM_011533684.2:c.6693A>G XP_011531986.1:p.Thr2231=
XM_011533685.2:c.6687A>G XP_011531987.1:p.Thr2229=
XM_011533686.2:c.6684A>G XP_011531988.1:p.Thr2228=
XM_011533687.2:c.6675A>G XP_011531989.1:p.Thr2225=
XM_011533688.2:c.6648A>G XP_011531990.1:p.Thr2216=
XM_011533690.2:c.6720A>G XP_011531992.1:p.Thr2240=
XM_017006357.2:c.6717A>G XP_016861846.1:p.Thr2239=
NM_001099952.3:c.6573A>G NP_001093422.2:p.Thr2191=
NM_002222.6:c.6528A>G NP_002213.5:p.Thr2176=
NM_001099952.4:c.6573A>G NP_001093422.2:p.Thr2191=
NM_001168272.2:c.6672A>G NP_001161744.1:p.Thr2224=
NM_001378452.1:c.6717A>G MANE Select NP_001365381.1:p.Thr2239=
NM_002222.7:c.6528A>G NP_002213.5:p.Thr2176=