Canonical Allele Identifier: CA2232649

Gene: ITPR1

Linked Data

• dbSNP Id: rs773955902
• ExAC: 3:4829680 G / A
• gnomAD v2: 3-4829680-G-A
• gnomAD v3: 3-4787996-G-A
• gnomAD v4: 3-4787996-G-A
• MyVariant Identifiers: chr3:g.4829680G>A (hg19) ; chr3:g.4787996G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4787996G>A , CM000665.2:g.4787996G>A	GRCh38
NC_000003.11:g.4829680G>A , CM000665.1:g.4829680G>A	GRCh37
NC_000003.10:g.4804680G>A	NCBI36
NG_016144.1:g.299649G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6676G>A	ENSP00000306253.9:n.6676G>A
ENST00000354582.12:c.6641G>A	ENSP00000346595.8:p.Ser2214Asn
ENST00000443694.5:c.6620G>A	ENSP00000401671.2:p.Ser2207Asn
ENST00000354582.11:c.6641G>A	ENSP00000346595.8:p.Ser2214Asn
ENST00000357086.10:c.6521G>A	ENSP00000349597.4:p.Ser2174Asn
ENST00000443694.4:c.6620G>A	ENSP00000401671.2:p.Ser2207Asn
ENST00000456211.8:c.6476G>A	ENSP00000397885.2:p.Ser2159Asn
ENST00000481415.2:n.557G>A
ENST00000544951.6:c.997-18107G>A	ENSP00000440564.1:n.997-18107G>A
ENST00000647708.1:c.2564G>A
ENST00000647717.1:n.4169G>A
ENST00000648016.1:c.3000G>A
ENST00000648038.1:c.4427G>A	ENSP00000497872.1:p.Ser1476Asn
ENST00000648212.1:c.3573G>A
ENST00000648266.1:c.6638G>A	ENSP00000498014.1:p.Ser2213Asn
ENST00000648309.1:c.6593G>A	ENSP00000497026.1:p.Ser2198Asn
ENST00000648390.1:c.447-58143G>A
ENST00000648431.1:c.3967G>A
ENST00000648510.1:n.499G>A
ENST00000649015.2:c.6665G>A MANE Select	ENSP00000497605.1:p.Ser2222Asn
ENST00000649144.1:n.1713G>A
ENST00000649272.1:n.227G>A
ENST00000649694.1:n.4150G>A
ENST00000650294.1:c.6623G>A	ENSP00000498056.1:p.Ser2208Asn
ENST00000302640.12:c.6620G>A	ENSP00000306253.8:p.Ser2207Asn
ENST00000354582.10:c.6665G>A	ENSP00000346595.7:p.Ser2222Asn
ENST00000357086.9:c.6521G>A	ENSP00000349597.4:p.Ser2174Asn
ENST00000443694.3:c.6620G>A	ENSP00000401671.2:p.Ser2207Asn
ENST00000456211.7:c.6476G>A	ENSP00000397885.2:p.Ser2159Asn
ENST00000544951.5:c.997-18107G>A	ENSP00000440564.1:n.997-18107G>A
NM_001099952.2:c.6521G>A	NP_001093422.2:p.Ser2174Asn
NM_001168272.1:c.6620G>A	NP_001161744.1:p.Ser2207Asn
NM_002222.5:c.6476G>A	NP_002213.5:p.Ser2159Asn
XM_005265109.2:c.6596G>A	XP_005265166.1:p.Ser2199Asn
XM_005265110.2:c.6548G>A	XP_005265167.1:p.Ser2183Asn
XM_006713131.2:c.6599G>A	XP_006713194.1:p.Ser2200Asn
XM_011533681.1:c.6668G>A	XP_011531983.1:p.Ser2223Asn
XM_011533682.1:c.6668G>A	XP_011531984.1:p.Ser2223Asn
XM_011533683.1:c.6665G>A	XP_011531985.1:p.Ser2222Asn
XM_011533684.1:c.6641G>A	XP_011531986.1:p.Ser2214Asn
XM_011533685.1:c.6635G>A	XP_011531987.1:p.Ser2212Asn
XM_011533686.1:c.6632G>A	XP_011531988.1:p.Ser2211Asn
XM_011533687.1:c.6623G>A	XP_011531989.1:p.Ser2208Asn
XM_011533688.1:c.6596G>A	XP_011531990.1:p.Ser2199Asn
XM_011533689.1:c.6557G>A	XP_011531991.1:p.Ser2186Asn
XM_011533690.1:c.6668G>A	XP_011531992.1:p.Ser2223Asn
XM_005265109.3:c.6596G>A	XP_005265166.1:p.Ser2199Asn
XM_005265110.3:c.6548G>A	XP_005265167.1:p.Ser2183Asn
XM_006713131.3:c.6599G>A	XP_006713194.1:p.Ser2200Asn
XM_011533682.3:c.6668G>A	XP_011531984.1:p.Ser2223Asn
XM_011533683.3:c.6665G>A	XP_011531985.1:p.Ser2222Asn
XM_011533684.2:c.6641G>A	XP_011531986.1:p.Ser2214Asn
XM_011533685.2:c.6635G>A	XP_011531987.1:p.Ser2212Asn
XM_011533686.2:c.6632G>A	XP_011531988.1:p.Ser2211Asn
XM_011533687.2:c.6623G>A	XP_011531989.1:p.Ser2208Asn
XM_011533688.2:c.6596G>A	XP_011531990.1:p.Ser2199Asn
XM_011533690.2:c.6668G>A	XP_011531992.1:p.Ser2223Asn
XM_017006357.2:c.6665G>A	XP_016861846.1:p.Ser2222Asn
NM_001099952.3:c.6521G>A	NP_001093422.2:p.Ser2174Asn
NM_002222.6:c.6476G>A	NP_002213.5:p.Ser2159Asn
NM_001099952.4:c.6521G>A	NP_001093422.2:p.Ser2174Asn
NM_001168272.2:c.6620G>A	NP_001161744.1:p.Ser2207Asn
NM_001378452.1:c.6665G>A MANE Select	NP_001365381.1:p.Ser2222Asn
NM_002222.7:c.6476G>A	NP_002213.5:p.Ser2159Asn