Canonical Allele Identifier: CA2232856
Community Standard Title: NM_001378452.1(ITPR1):c.7474G>A (p.Gly2492Ser)
Gene: ITPR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4813147G>A , CM000665.2:g.4813147G>A GRCh38
NC_000003.11:g.4854831G>A , CM000665.1:g.4854831G>A GRCh37
NC_000003.10:g.4829831G>A NCBI36
NG_016144.1:g.324800G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001378452.1:c.7474G>A MANE Select NP_001365381.1:p.Gly2492Ser
ENST00000649015.2:c.7474G>A MANE Select ENSP00000497605.1:p.Gly2492Ser
NM_001099952.2:c.7330G>A NP_001093422.2:p.Gly2444Ser
NM_001099952.3:c.7330G>A NP_001093422.2:p.Gly2444Ser
NM_001099952.4:c.7330G>A NP_001093422.2:p.Gly2444Ser
NM_001168272.1:c.7429G>A NP_001161744.1:p.Gly2477Ser
NM_001168272.2:c.7429G>A NP_001161744.1:p.Gly2477Ser
NM_002222.5:c.7285G>A NP_002213.5:p.Gly2429Ser
NM_002222.6:c.7285G>A NP_002213.5:p.Gly2429Ser
NM_002222.7:c.7285G>A NP_002213.5:p.Gly2429Ser
ENST00000302640.12:c.7429G>A ENSP00000306253.8:p.Gly2477Ser
ENST00000302640.13:c.7485G>A ENSP00000306253.9:n.7485G>A
ENST00000354582.10:c.7474G>A ENSP00000346595.7:p.Gly2492Ser
ENST00000354582.11:c.7450G>A ENSP00000346595.8:p.Gly2484Ser
ENST00000354582.12:c.7450G>A ENSP00000346595.8:p.Gly2484Ser
ENST00000357086.10:c.7330G>A ENSP00000349597.4:p.Gly2444Ser
ENST00000357086.9:c.7330G>A ENSP00000349597.4:p.Gly2444Ser
ENST00000443694.3:c.7429G>A ENSP00000401671.2:p.Gly2477Ser
ENST00000443694.4:c.7429G>A ENSP00000401671.2:p.Gly2477Ser
ENST00000443694.5:c.7429G>A ENSP00000401671.2:p.Gly2477Ser
ENST00000456211.7:c.7285G>A ENSP00000397885.2:p.Gly2429Ser
ENST00000456211.8:c.7285G>A ENSP00000397885.2:p.Gly2429Ser
ENST00000463980.5:n.776G>A
ENST00000463980.6:n.791G>A
ENST00000467545.6:n.731G>A
ENST00000472205.1:n.101G>A
ENST00000493491.5:n.752G>A
ENST00000493491.6:n.752G>A
ENST00000544951.5:c.1363G>A ENSP00000440564.1:p.Gly455Ser
ENST00000544951.6:c.1363G>A ENSP00000440564.1:p.Gly455Ser
ENST00000647708.1:c.3373G>A
ENST00000647717.1:n.4978G>A
ENST00000647997.1:n.494G>A
ENST00000648016.1:c.3842G>A
ENST00000648038.1:c.5236G>A ENSP00000497872.1:p.Gly1746Ser
ENST00000648208.1:n.485G>A
ENST00000648212.1:c.4415G>A
ENST00000648266.1:c.7447G>A ENSP00000498014.1:p.Gly2483Ser
ENST00000648309.1:c.7402G>A ENSP00000497026.1:p.Gly2468Ser
ENST00000648390.1:c.447-32992G>A
ENST00000648431.1:c.4653G>A
ENST00000648770.1:n.568G>A
ENST00000649144.1:n.2522G>A
ENST00000649314.1:n.602G>A
ENST00000649694.1:n.4959G>A
ENST00000649767.1:n.806G>A
ENST00000650074.1:n.784G>A
ENST00000650139.1:n.2238G>A
ENST00000650294.1:c.7432G>A ENSP00000498056.1:p.Gly2478Ser
ENST00000650552.1:n.900G>A
XM_005265109.2:c.7405G>A XP_005265166.1:p.Gly2469Ser
XM_005265109.3:c.7405G>A XP_005265166.1:p.Gly2469Ser
XM_005265110.2:c.7357G>A XP_005265167.1:p.Gly2453Ser
XM_005265110.3:c.7357G>A XP_005265167.1:p.Gly2453Ser
XM_006713131.2:c.7408G>A XP_006713194.1:p.Gly2470Ser
XM_006713131.3:c.7408G>A XP_006713194.1:p.Gly2470Ser
XM_011533681.1:c.7477G>A XP_011531983.1:p.Gly2493Ser
XM_011533682.1:c.7477G>A XP_011531984.1:p.Gly2493Ser
XM_011533682.3:c.7477G>A XP_011531984.1:p.Gly2493Ser
XM_011533683.1:c.7474G>A XP_011531985.1:p.Gly2492Ser
XM_011533683.3:c.7474G>A XP_011531985.1:p.Gly2492Ser
XM_011533684.1:c.7450G>A XP_011531986.1:p.Gly2484Ser
XM_011533684.2:c.7450G>A XP_011531986.1:p.Gly2484Ser
XM_011533685.1:c.7444G>A XP_011531987.1:p.Gly2482Ser
XM_011533685.2:c.7444G>A XP_011531987.1:p.Gly2482Ser
XM_011533686.1:c.7441G>A XP_011531988.1:p.Gly2481Ser
XM_011533686.2:c.7441G>A XP_011531988.1:p.Gly2481Ser
XM_011533687.1:c.7432G>A XP_011531989.1:p.Gly2478Ser
XM_011533687.2:c.7432G>A XP_011531989.1:p.Gly2478Ser
XM_011533688.1:c.7405G>A XP_011531990.1:p.Gly2469Ser
XM_011533688.2:c.7405G>A XP_011531990.1:p.Gly2469Ser
XM_011533689.1:c.7366G>A XP_011531991.1:p.Gly2456Ser
XM_011533690.1:c.7354G>A XP_011531992.1:p.Gly2452Ser
XM_011533690.2:c.7354G>A XP_011531992.1:p.Gly2452Ser
XM_017006357.2:c.7351G>A XP_016861846.1:p.Gly2451Ser