Canonical Allele Identifier: CA351649720
Community Standard Title: NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr)
Gene: ITPR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4815144T>C , CM000665.2:g.4815144T>C GRCh38
NC_000003.11:g.4856828T>C , CM000665.1:g.4856828T>C GRCh37
NC_000003.10:g.4831828T>C NCBI36
NG_016144.1:g.326797T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001378452.1:c.7793T>C MANE Select NP_001365381.1:p.Ile2598Thr
ENST00000649015.2:c.7793T>C MANE Select ENSP00000497605.1:p.Ile2598Thr
NM_001099952.2:c.7649T>C NP_001093422.2:p.Ile2550Thr
NM_001099952.3:c.7649T>C NP_001093422.2:p.Ile2550Thr
NM_001099952.4:c.7649T>C NP_001093422.2:p.Ile2550Thr
NM_001168272.1:c.7748T>C NP_001161744.1:p.Ile2583Thr
NM_001168272.2:c.7748T>C NP_001161744.1:p.Ile2583Thr
NM_002222.5:c.7604T>C NP_002213.5:p.Ile2535Thr
NM_002222.6:c.7604T>C NP_002213.5:p.Ile2535Thr
NM_002222.7:c.7604T>C NP_002213.5:p.Ile2535Thr
ENST00000302640.12:c.7748T>C ENSP00000306253.8:p.Ile2583Thr
ENST00000302640.13:c.7804T>C ENSP00000306253.9:n.7804T>C
ENST00000354582.10:c.7793T>C ENSP00000346595.7:p.Ile2598Thr
ENST00000354582.11:c.7769T>C ENSP00000346595.8:p.Ile2590Thr
ENST00000354582.12:c.7769T>C ENSP00000346595.8:p.Ile2590Thr
ENST00000357086.10:c.7649T>C ENSP00000349597.4:p.Ile2550Thr
ENST00000357086.9:c.7649T>C ENSP00000349597.4:p.Ile2550Thr
ENST00000443694.3:c.7748T>C ENSP00000401671.2:p.Ile2583Thr
ENST00000443694.4:c.7748T>C ENSP00000401671.2:p.Ile2583Thr
ENST00000443694.5:c.7748T>C ENSP00000401671.2:p.Ile2583Thr
ENST00000456211.7:c.7604T>C ENSP00000397885.2:p.Ile2535Thr
ENST00000456211.8:c.7604T>C ENSP00000397885.2:p.Ile2535Thr
ENST00000463980.5:n.1095T>C
ENST00000463980.6:n.1110T>C
ENST00000467545.6:n.1050T>C
ENST00000472205.1:n.420T>C
ENST00000478515.1:n.500T>C
ENST00000478515.2:c.127T>C
ENST00000493491.5:n.1071T>C
ENST00000493491.6:n.1071T>C
ENST00000544951.5:c.1682T>C ENSP00000440564.1:p.Ile561Thr
ENST00000544951.6:c.1682T>C ENSP00000440564.1:p.Ile561Thr
ENST00000647685.1:c.44T>C ENSP00000497835.1:p.Ile15Thr
ENST00000647708.1:c.3692T>C
ENST00000647717.1:n.5297T>C
ENST00000647997.1:n.813T>C
ENST00000648016.1:c.4161T>C
ENST00000648038.1:c.5555T>C ENSP00000497872.1:p.Ile1852Thr
ENST00000648208.1:n.804T>C
ENST00000648212.1:c.4734T>C
ENST00000648266.1:c.7766T>C ENSP00000498014.1:p.Ile2589Thr
ENST00000648309.1:c.7721T>C ENSP00000497026.1:p.Ile2574Thr
ENST00000648390.1:c.447-30995T>C
ENST00000648431.1:c.4972T>C
ENST00000648770.1:n.887T>C
ENST00000649139.1:c.44T>C ENSP00000497226.1:p.Ile15Thr
ENST00000649144.1:n.2841T>C
ENST00000649314.1:n.921T>C
ENST00000649430.1:n.332T>C
ENST00000649694.1:n.5278T>C
ENST00000649767.1:n.1125T>C
ENST00000649908.1:c.44T>C ENSP00000497614.1:p.Ile15Thr
ENST00000650074.1:n.1103T>C
ENST00000650139.1:n.2557T>C
ENST00000650294.1:c.7751T>C ENSP00000498056.1:p.Ile2584Thr
ENST00000650552.1:n.1219T>C
XM_005265109.2:c.7724T>C XP_005265166.1:p.Ile2575Thr
XM_005265109.3:c.7724T>C XP_005265166.1:p.Ile2575Thr
XM_005265110.2:c.7676T>C XP_005265167.1:p.Ile2559Thr
XM_005265110.3:c.7676T>C XP_005265167.1:p.Ile2559Thr
XM_006713131.2:c.7727T>C XP_006713194.1:p.Ile2576Thr
XM_006713131.3:c.7727T>C XP_006713194.1:p.Ile2576Thr
XM_011533681.1:c.7796T>C XP_011531983.1:p.Ile2599Thr
XM_011533682.1:c.7796T>C XP_011531984.1:p.Ile2599Thr
XM_011533682.3:c.7796T>C XP_011531984.1:p.Ile2599Thr
XM_011533683.1:c.7793T>C XP_011531985.1:p.Ile2598Thr
XM_011533683.3:c.7793T>C XP_011531985.1:p.Ile2598Thr
XM_011533684.1:c.7769T>C XP_011531986.1:p.Ile2590Thr
XM_011533684.2:c.7769T>C XP_011531986.1:p.Ile2590Thr
XM_011533685.1:c.7763T>C XP_011531987.1:p.Ile2588Thr
XM_011533685.2:c.7763T>C XP_011531987.1:p.Ile2588Thr
XM_011533686.1:c.7760T>C XP_011531988.1:p.Ile2587Thr
XM_011533686.2:c.7760T>C XP_011531988.1:p.Ile2587Thr
XM_011533687.1:c.7751T>C XP_011531989.1:p.Ile2584Thr
XM_011533687.2:c.7751T>C XP_011531989.1:p.Ile2584Thr
XM_011533688.1:c.7724T>C XP_011531990.1:p.Ile2575Thr
XM_011533688.2:c.7724T>C XP_011531990.1:p.Ile2575Thr
XM_011533689.1:c.7685T>C XP_011531991.1:p.Ile2562Thr
XM_011533690.1:c.7673T>C XP_011531992.1:p.Ile2558Thr
XM_011533690.2:c.7673T>C XP_011531992.1:p.Ile2558Thr
XM_017006357.2:c.7670T>C XP_016861846.1:p.Ile2557Thr