Canonical Allele Identifier: CA10581494
Community Standard Title: NM_001378452.1(ITPR1):c.6808+5G>T
Gene: ITPR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4788144G>T , CM000665.2:g.4788144G>T GRCh38
NC_000003.11:g.4829828G>T , CM000665.1:g.4829828G>T GRCh37
NC_000003.10:g.4804828G>T NCBI36
NG_016144.1:g.299797G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001378452.1:c.6808+5G>T MANE Select NP_001365381.1:n.6808+5G>T
ENST00000649015.2:c.6808+5G>T MANE Select ENSP00000497605.1:n.6808+5G>T
NM_001099952.2:c.6664+5G>T NP_001093422.2:n.6664+5G>T
NM_001099952.3:c.6664+5G>T NP_001093422.2:n.6664+5G>T
NM_001099952.4:c.6664+5G>T NP_001093422.2:n.6664+5G>T
NM_001168272.1:c.6763+5G>T NP_001161744.1:n.6763+5G>T
NM_001168272.2:c.6763+5G>T NP_001161744.1:n.6763+5G>T
NM_002222.5:c.6619+5G>T NP_002213.5:n.6619+5G>T
NM_002222.6:c.6619+5G>T NP_002213.5:n.6619+5G>T
NM_002222.7:c.6619+5G>T NP_002213.5:n.6619+5G>T
ENST00000302640.12:c.6763+5G>T ENSP00000306253.8:n.6763+5G>T
ENST00000302640.13:c.6819+5G>T ENSP00000306253.9:n.6819+5G>T
ENST00000354582.10:c.6808+5G>T ENSP00000346595.7:n.6808+5G>T
ENST00000354582.11:c.6784+5G>T ENSP00000346595.8:n.6784+5G>T
ENST00000354582.12:c.6784+5G>T ENSP00000346595.8:n.6784+5G>T
ENST00000357086.10:c.6664+5G>T ENSP00000349597.4:n.6664+5G>T
ENST00000357086.9:c.6664+5G>T ENSP00000349597.4:n.6664+5G>T
ENST00000443694.3:c.6763+5G>T ENSP00000401671.2:n.6763+5G>T
ENST00000443694.4:c.6763+5G>T ENSP00000401671.2:n.6763+5G>T
ENST00000443694.5:c.6763+5G>T ENSP00000401671.2:n.6763+5G>T
ENST00000456211.7:c.6619+5G>T ENSP00000397885.2:n.6619+5G>T
ENST00000456211.8:c.6619+5G>T ENSP00000397885.2:n.6619+5G>T
ENST00000481415.2:n.705G>T
ENST00000544951.5:c.997-17959G>T ENSP00000440564.1:n.997-17959G>T
ENST00000544951.6:c.997-17959G>T ENSP00000440564.1:n.997-17959G>T
ENST00000647708.1:c.2707+5G>T
ENST00000647717.1:n.4312+5G>T
ENST00000648016.1:c.3143+5G>T
ENST00000648038.1:c.4570+5G>T ENSP00000497872.1:n.4570+5G>T
ENST00000648212.1:c.3716+5G>T
ENST00000648266.1:c.6781+5G>T ENSP00000498014.1:n.6781+5G>T
ENST00000648309.1:c.6736+5G>T ENSP00000497026.1:n.6736+5G>T
ENST00000648390.1:c.447-57995G>T
ENST00000648431.1:c.4110+5G>T
ENST00000648510.1:n.642+5G>T
ENST00000649144.1:n.1856+5G>T
ENST00000649272.1:n.375G>T
ENST00000649694.1:n.4293+5G>T
ENST00000650294.1:c.6766+5G>T ENSP00000498056.1:n.6766+5G>T
XM_005265109.2:c.6739+5G>T XP_005265166.1:n.6739+5G>T
XM_005265109.3:c.6739+5G>T XP_005265166.1:n.6739+5G>T
XM_005265110.2:c.6691+5G>T XP_005265167.1:n.6691+5G>T
XM_005265110.3:c.6691+5G>T XP_005265167.1:n.6691+5G>T
XM_006713131.2:c.6742+5G>T XP_006713194.1:n.6742+5G>T
XM_006713131.3:c.6742+5G>T XP_006713194.1:n.6742+5G>T
XM_011533681.1:c.6811+5G>T XP_011531983.1:n.6811+5G>T
XM_011533682.1:c.6811+5G>T XP_011531984.1:n.6811+5G>T
XM_011533682.3:c.6811+5G>T XP_011531984.1:n.6811+5G>T
XM_011533683.1:c.6808+5G>T XP_011531985.1:n.6808+5G>T
XM_011533683.3:c.6808+5G>T XP_011531985.1:n.6808+5G>T
XM_011533684.1:c.6784+5G>T XP_011531986.1:n.6784+5G>T
XM_011533684.2:c.6784+5G>T XP_011531986.1:n.6784+5G>T
XM_011533685.1:c.6778+5G>T XP_011531987.1:n.6778+5G>T
XM_011533685.2:c.6778+5G>T XP_011531987.1:n.6778+5G>T
XM_011533686.1:c.6775+5G>T XP_011531988.1:n.6775+5G>T
XM_011533686.2:c.6775+5G>T XP_011531988.1:n.6775+5G>T
XM_011533687.1:c.6766+5G>T XP_011531989.1:n.6766+5G>T
XM_011533687.2:c.6766+5G>T XP_011531989.1:n.6766+5G>T
XM_011533688.1:c.6739+5G>T XP_011531990.1:n.6739+5G>T
XM_011533688.2:c.6739+5G>T XP_011531990.1:n.6739+5G>T
XM_011533689.1:c.6700+5G>T XP_011531991.1:n.6700+5G>T
XM_011533690.1:c.6811+5G>T XP_011531992.1:n.6811+5G>T
XM_011533690.2:c.6811+5G>T XP_011531992.1:n.6811+5G>T
XM_017006357.2:c.6808+5G>T XP_016861846.1:n.6808+5G>T