Canonical Allele Identifier: CA16617972
Gene: ITPR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423129
dbSNP Id: rs1064796252

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4667476C>T , CM000665.2:g.4667476C>T GRCh38
NC_000003.11:g.4709160C>T , CM000665.1:g.4709160C>T GRCh37
NC_000003.10:g.4684160C>T NCBI36
NG_016144.1:g.179129C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302640.13:c.1813C>T ENSP00000306253.9:p.Leu605Phe
ENST00000354582.12:c.1813C>T ENSP00000346595.8:p.Leu605Phe
ENST00000443694.5:c.1768C>T ENSP00000401671.2:p.Leu590Phe
ENST00000354582.11:c.1813C>T ENSP00000346595.8:p.Leu605Phe
ENST00000357086.10:c.1813C>T ENSP00000349597.4:p.Leu605Phe
ENST00000443694.4:c.1768C>T ENSP00000401671.2:p.Leu590Phe
ENST00000456211.8:c.1768C>T ENSP00000397885.2:p.Leu590Phe
ENST00000477577.2:n.1930C>T
ENST00000544951.6:c.996+13590C>T ENSP00000440564.1:n.996+13590C>T
ENST00000648266.1:c.1813C>T ENSP00000498014.1:p.Leu605Phe
ENST00000648309.1:c.1768C>T ENSP00000497026.1:p.Leu590Phe
ENST00000649015.2:c.1813C>T MANE Select ENSP00000497605.1:p.Leu605Phe
ENST00000649051.1:c.1489C>T ENSP00000497851.1:p.Leu497Phe
ENST00000650294.1:c.1768C>T ENSP00000498056.1:p.Leu590Phe
ENST00000302640.12:c.1768C>T ENSP00000306253.8:p.Leu590Phe
ENST00000354582.10:c.1813C>T ENSP00000346595.7:p.Leu605Phe
ENST00000357086.9:c.1813C>T ENSP00000349597.4:p.Leu605Phe
ENST00000443694.3:c.1768C>T ENSP00000401671.2:p.Leu590Phe
ENST00000456211.7:c.1768C>T ENSP00000397885.2:p.Leu590Phe
ENST00000477577.1:n.1498C>T
ENST00000544951.5:c.996+13590C>T ENSP00000440564.1:n.996+13590C>T
NM_001099952.2:c.1813C>T NP_001093422.2:p.Leu605Phe
NM_001168272.1:c.1768C>T NP_001161744.1:p.Leu590Phe
NM_002222.5:c.1768C>T NP_002213.5:p.Leu590Phe
XM_005265109.2:c.1813C>T XP_005265166.1:p.Leu605Phe
XM_005265110.2:c.1813C>T XP_005265167.1:p.Leu605Phe
XM_006713131.2:c.1813C>T XP_006713194.1:p.Leu605Phe
XM_011533681.1:c.1813C>T XP_011531983.1:p.Leu605Phe
XM_011533682.1:c.1813C>T XP_011531984.1:p.Leu605Phe
XM_011533683.1:c.1813C>T XP_011531985.1:p.Leu605Phe
XM_011533684.1:c.1813C>T XP_011531986.1:p.Leu605Phe
XM_011533685.1:c.1813C>T XP_011531987.1:p.Leu605Phe
XM_011533686.1:c.1813C>T XP_011531988.1:p.Leu605Phe
XM_011533687.1:c.1768C>T XP_011531989.1:p.Leu590Phe
XM_011533688.1:c.1768C>T XP_011531990.1:p.Leu590Phe
XM_011533689.1:c.1813C>T XP_011531991.1:p.Leu605Phe
XM_011533690.1:c.1813C>T XP_011531992.1:p.Leu605Phe
XM_011533691.1:c.1813C>T XP_011531993.1:p.Leu605Phe
XM_011533692.1:c.1813C>T XP_011531994.1:p.Leu605Phe
XM_005265109.3:c.1813C>T XP_005265166.1:p.Leu605Phe
XM_005265110.3:c.1813C>T XP_005265167.1:p.Leu605Phe
XM_006713131.3:c.1813C>T XP_006713194.1:p.Leu605Phe
XM_011533682.3:c.1813C>T XP_011531984.1:p.Leu605Phe
XM_011533683.3:c.1813C>T XP_011531985.1:p.Leu605Phe
XM_011533684.2:c.1813C>T XP_011531986.1:p.Leu605Phe
XM_011533685.2:c.1813C>T XP_011531987.1:p.Leu605Phe
XM_011533686.2:c.1813C>T XP_011531988.1:p.Leu605Phe
XM_011533687.2:c.1768C>T XP_011531989.1:p.Leu590Phe
XM_011533688.2:c.1768C>T XP_011531990.1:p.Leu590Phe
XM_011533690.2:c.1813C>T XP_011531992.1:p.Leu605Phe
XM_011533692.2:c.1813C>T XP_011531994.1:p.Leu605Phe
XM_017006357.2:c.1813C>T XP_016861846.1:p.Leu605Phe
XM_017006358.1:c.1813C>T XP_016861847.1:p.Leu605Phe
NM_001099952.3:c.1813C>T NP_001093422.2:p.Leu605Phe
NM_002222.6:c.1768C>T NP_002213.5:p.Leu590Phe
NM_001099952.4:c.1813C>T NP_001093422.2:p.Leu605Phe
NM_001168272.2:c.1768C>T NP_001161744.1:p.Leu590Phe
NM_001378452.1:c.1813C>T MANE Select NP_001365381.1:p.Leu605Phe
NM_002222.7:c.1768C>T NP_002213.5:p.Leu590Phe