Canonical Allele Identifier: CA2231949

Gene: ITPR1

Linked Data

• ClinVar Variation Id: 345737
• ClinVar RCV Id: RCV000387446 ; RCV000884285 ; RCV000516241 ; RCV002488752
• dbSNP Id: rs3749383
• ExAC: 3:4738837 A / G
• gnomAD v2: 3-4738837-A-G
• gnomAD v3: 3-4697153-A-G
• gnomAD v4: 3-4697153-A-G
• MyVariant Identifiers: chr3:g.4738837A>G (hg19) ; chr3:g.4697153A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4697153A>G , CM000665.2:g.4697153A>G	GRCh38
NC_000003.11:g.4738837A>G , CM000665.1:g.4738837A>G	GRCh37
NC_000003.10:g.4713837A>G	NCBI36
NG_016144.1:g.208806A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.4261A>G	ENSP00000306253.9:p.Ile1421Val
ENST00000354582.12:c.4261A>G	ENSP00000346595.8:p.Ile1421Val
ENST00000443694.5:c.4243A>G	ENSP00000401671.2:p.Ile1415Val
ENST00000354582.11:c.4261A>G	ENSP00000346595.8:p.Ile1421Val
ENST00000357086.10:c.4261A>G	ENSP00000349597.4:p.Ile1421Val
ENST00000443694.4:c.4243A>G	ENSP00000401671.2:p.Ile1415Val
ENST00000456211.8:c.4216A>G	ENSP00000397885.2:p.Ile1406Val
ENST00000544951.6:c.996+43267A>G	ENSP00000440564.1:n.996+43267A>G
ENST00000647624.1:n.1000A>G
ENST00000647673.1:n.280A>G
ENST00000647708.1:c.149A>G
ENST00000647717.1:n.1789A>G
ENST00000648016.1:c.620A>G
ENST00000648038.1:c.2098A>G	ENSP00000497872.1:p.Ile700Val
ENST00000648212.1:c.1196A>G
ENST00000648266.1:c.4261A>G	ENSP00000498014.1:p.Ile1421Val
ENST00000648309.1:c.4216A>G	ENSP00000497026.1:p.Ile1406Val
ENST00000648431.1:c.1590A>G
ENST00000649015.2:c.4288A>G MANE Select	ENSP00000497605.1:p.Ile1430Val
ENST00000650294.1:c.4243A>G	ENSP00000498056.1:p.Ile1415Val
ENST00000302640.12:c.4243A>G	ENSP00000306253.8:p.Ile1415Val
ENST00000354582.10:c.4288A>G	ENSP00000346595.7:p.Ile1430Val
ENST00000357086.9:c.4261A>G	ENSP00000349597.4:p.Ile1421Val
ENST00000443694.3:c.4243A>G	ENSP00000401671.2:p.Ile1415Val
ENST00000456211.7:c.4216A>G	ENSP00000397885.2:p.Ile1406Val
ENST00000544951.5:c.996+43267A>G	ENSP00000440564.1:n.996+43267A>G
NM_001099952.2:c.4261A>G	NP_001093422.2:p.Ile1421Val
NM_001168272.1:c.4243A>G	NP_001161744.1:p.Ile1415Val
NM_002222.5:c.4216A>G	NP_002213.5:p.Ile1406Val
XM_005265109.2:c.4288A>G	XP_005265166.1:p.Ile1430Val
XM_005265110.2:c.4288A>G	XP_005265167.1:p.Ile1430Val
XM_006713131.2:c.4288A>G	XP_006713194.1:p.Ile1430Val
XM_011533681.1:c.4288A>G	XP_011531983.1:p.Ile1430Val
XM_011533682.1:c.4288A>G	XP_011531984.1:p.Ile1430Val
XM_011533683.1:c.4288A>G	XP_011531985.1:p.Ile1430Val
XM_011533684.1:c.4261A>G	XP_011531986.1:p.Ile1421Val
XM_011533685.1:c.4288A>G	XP_011531987.1:p.Ile1430Val
XM_011533686.1:c.4288A>G	XP_011531988.1:p.Ile1430Val
XM_011533687.1:c.4243A>G	XP_011531989.1:p.Ile1415Val
XM_011533688.1:c.4216A>G	XP_011531990.1:p.Ile1406Val
XM_011533689.1:c.4288A>G	XP_011531991.1:p.Ile1430Val
XM_011533690.1:c.4288A>G	XP_011531992.1:p.Ile1430Val
XM_011533691.1:c.4288A>G	XP_011531993.1:p.Ile1430Val
XM_011533692.1:c.4288A>G	XP_011531994.1:p.Ile1430Val
XM_005265109.3:c.4288A>G	XP_005265166.1:p.Ile1430Val
XM_005265110.3:c.4288A>G	XP_005265167.1:p.Ile1430Val
XM_006713131.3:c.4288A>G	XP_006713194.1:p.Ile1430Val
XM_011533682.3:c.4288A>G	XP_011531984.1:p.Ile1430Val
XM_011533683.3:c.4288A>G	XP_011531985.1:p.Ile1430Val
XM_011533684.2:c.4261A>G	XP_011531986.1:p.Ile1421Val
XM_011533685.2:c.4288A>G	XP_011531987.1:p.Ile1430Val
XM_011533686.2:c.4288A>G	XP_011531988.1:p.Ile1430Val
XM_011533687.2:c.4243A>G	XP_011531989.1:p.Ile1415Val
XM_011533688.2:c.4216A>G	XP_011531990.1:p.Ile1406Val
XM_011533690.2:c.4288A>G	XP_011531992.1:p.Ile1430Val
XM_011533692.2:c.4288A>G	XP_011531994.1:p.Ile1430Val
XM_017006357.2:c.4288A>G	XP_016861846.1:p.Ile1430Val
XM_017006358.1:c.4288A>G	XP_016861847.1:p.Ile1430Val
NM_001099952.3:c.4261A>G	NP_001093422.2:p.Ile1421Val
NM_002222.6:c.4216A>G	NP_002213.5:p.Ile1406Val
NM_001099952.4:c.4261A>G	NP_001093422.2:p.Ile1421Val
NM_001168272.2:c.4243A>G	NP_001161744.1:p.Ile1415Val
NM_001378452.1:c.4288A>G MANE Select	NP_001365381.1:p.Ile1430Val
NM_002222.7:c.4216A>G	NP_002213.5:p.Ile1406Val