Canonical Allele Identifier: CA351649741
Community Standard Title: NM_001378452.1(ITPR1):c.7798A>C (p.Thr2600Pro)
Gene: ITPR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4815149A>C , CM000665.2:g.4815149A>C GRCh38
NC_000003.11:g.4856833A>C , CM000665.1:g.4856833A>C GRCh37
NC_000003.10:g.4831833A>C NCBI36
NG_016144.1:g.326802A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001378452.1:c.7798A>C MANE Select NP_001365381.1:p.Thr2600Pro
ENST00000649015.2:c.7798A>C MANE Select ENSP00000497605.1:p.Thr2600Pro
NM_001099952.2:c.7654A>C NP_001093422.2:p.Thr2552Pro
NM_001099952.3:c.7654A>C NP_001093422.2:p.Thr2552Pro
NM_001099952.4:c.7654A>C NP_001093422.2:p.Thr2552Pro
NM_001168272.1:c.7753A>C NP_001161744.1:p.Thr2585Pro
NM_001168272.2:c.7753A>C NP_001161744.1:p.Thr2585Pro
NM_002222.5:c.7609A>C NP_002213.5:p.Thr2537Pro
NM_002222.6:c.7609A>C NP_002213.5:p.Thr2537Pro
NM_002222.7:c.7609A>C NP_002213.5:p.Thr2537Pro
ENST00000302640.12:c.7753A>C ENSP00000306253.8:p.Thr2585Pro
ENST00000302640.13:c.7809A>C ENSP00000306253.9:n.7809A>C
ENST00000354582.10:c.7798A>C ENSP00000346595.7:p.Thr2600Pro
ENST00000354582.11:c.7774A>C ENSP00000346595.8:p.Thr2592Pro
ENST00000354582.12:c.7774A>C ENSP00000346595.8:p.Thr2592Pro
ENST00000357086.10:c.7654A>C ENSP00000349597.4:p.Thr2552Pro
ENST00000357086.9:c.7654A>C ENSP00000349597.4:p.Thr2552Pro
ENST00000443694.3:c.7753A>C ENSP00000401671.2:p.Thr2585Pro
ENST00000443694.4:c.7753A>C ENSP00000401671.2:p.Thr2585Pro
ENST00000443694.5:c.7753A>C ENSP00000401671.2:p.Thr2585Pro
ENST00000456211.7:c.7609A>C ENSP00000397885.2:p.Thr2537Pro
ENST00000456211.8:c.7609A>C ENSP00000397885.2:p.Thr2537Pro
ENST00000463980.5:n.1100A>C
ENST00000463980.6:n.1115A>C
ENST00000467545.6:n.1055A>C
ENST00000472205.1:n.425A>C
ENST00000478515.1:n.505A>C
ENST00000478515.2:c.132A>C
ENST00000493491.5:n.1076A>C
ENST00000493491.6:n.1076A>C
ENST00000544951.5:c.1687A>C ENSP00000440564.1:p.Thr563Pro
ENST00000544951.6:c.1687A>C ENSP00000440564.1:p.Thr563Pro
ENST00000647685.1:c.49A>C ENSP00000497835.1:p.Thr17Pro
ENST00000647708.1:c.3697A>C
ENST00000647717.1:n.5302A>C
ENST00000647997.1:n.818A>C
ENST00000648016.1:c.4166A>C
ENST00000648038.1:c.5560A>C ENSP00000497872.1:p.Thr1854Pro
ENST00000648208.1:n.809A>C
ENST00000648212.1:c.4739A>C
ENST00000648266.1:c.7771A>C ENSP00000498014.1:p.Thr2591Pro
ENST00000648309.1:c.7726A>C ENSP00000497026.1:p.Thr2576Pro
ENST00000648390.1:c.447-30990A>C
ENST00000648431.1:c.4977A>C
ENST00000648770.1:n.892A>C
ENST00000649139.1:c.49A>C ENSP00000497226.1:p.Thr17Pro
ENST00000649144.1:n.2846A>C
ENST00000649314.1:n.926A>C
ENST00000649430.1:n.337A>C
ENST00000649694.1:n.5283A>C
ENST00000649767.1:n.1130A>C
ENST00000649908.1:c.49A>C ENSP00000497614.1:p.Thr17Pro
ENST00000650074.1:n.1108A>C
ENST00000650139.1:n.2562A>C
ENST00000650294.1:c.7756A>C ENSP00000498056.1:p.Thr2586Pro
ENST00000650552.1:n.1224A>C
XM_005265109.2:c.7729A>C XP_005265166.1:p.Thr2577Pro
XM_005265109.3:c.7729A>C XP_005265166.1:p.Thr2577Pro
XM_005265110.2:c.7681A>C XP_005265167.1:p.Thr2561Pro
XM_005265110.3:c.7681A>C XP_005265167.1:p.Thr2561Pro
XM_006713131.2:c.7732A>C XP_006713194.1:p.Thr2578Pro
XM_006713131.3:c.7732A>C XP_006713194.1:p.Thr2578Pro
XM_011533681.1:c.7801A>C XP_011531983.1:p.Thr2601Pro
XM_011533682.1:c.7801A>C XP_011531984.1:p.Thr2601Pro
XM_011533682.3:c.7801A>C XP_011531984.1:p.Thr2601Pro
XM_011533683.1:c.7798A>C XP_011531985.1:p.Thr2600Pro
XM_011533683.3:c.7798A>C XP_011531985.1:p.Thr2600Pro
XM_011533684.1:c.7774A>C XP_011531986.1:p.Thr2592Pro
XM_011533684.2:c.7774A>C XP_011531986.1:p.Thr2592Pro
XM_011533685.1:c.7768A>C XP_011531987.1:p.Thr2590Pro
XM_011533685.2:c.7768A>C XP_011531987.1:p.Thr2590Pro
XM_011533686.1:c.7765A>C XP_011531988.1:p.Thr2589Pro
XM_011533686.2:c.7765A>C XP_011531988.1:p.Thr2589Pro
XM_011533687.1:c.7756A>C XP_011531989.1:p.Thr2586Pro
XM_011533687.2:c.7756A>C XP_011531989.1:p.Thr2586Pro
XM_011533688.1:c.7729A>C XP_011531990.1:p.Thr2577Pro
XM_011533688.2:c.7729A>C XP_011531990.1:p.Thr2577Pro
XM_011533689.1:c.7690A>C XP_011531991.1:p.Thr2564Pro
XM_011533690.1:c.7678A>C XP_011531992.1:p.Thr2560Pro
XM_011533690.2:c.7678A>C XP_011531992.1:p.Thr2560Pro
XM_017006357.2:c.7675A>C XP_016861846.1:p.Thr2559Pro