Canonical Allele Identifier: CA2232657

Gene: ITPR1

Linked Data

• ClinVar Variation Id: 1544243
• ClinVar RCV Id: RCV002172825
• dbSNP Id: rs750456014
• ExAC: 3:4829726 T / C
• gnomAD v2: 3-4829726-T-C
• gnomAD v4: 3-4788042-T-C
• MyVariant Identifiers: chr3:g.4829726T>C (hg19) ; chr3:g.4788042T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788042T>C , CM000665.2:g.4788042T>C	GRCh38
NC_000003.11:g.4829726T>C , CM000665.1:g.4829726T>C	GRCh37
NC_000003.10:g.4804726T>C	NCBI36
NG_016144.1:g.299695T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6722T>C	ENSP00000306253.9:n.6722T>C
ENST00000354582.12:c.6687T>C	ENSP00000346595.8:p.Tyr2229=
ENST00000443694.5:c.6666T>C	ENSP00000401671.2:p.Tyr2222=
ENST00000354582.11:c.6687T>C	ENSP00000346595.8:p.Tyr2229=
ENST00000357086.10:c.6567T>C	ENSP00000349597.4:p.Tyr2189=
ENST00000443694.4:c.6666T>C	ENSP00000401671.2:p.Tyr2222=
ENST00000456211.8:c.6522T>C	ENSP00000397885.2:p.Tyr2174=
ENST00000481415.2:n.603T>C
ENST00000544951.6:c.997-18061T>C	ENSP00000440564.1:n.997-18061T>C
ENST00000647708.1:c.2610T>C
ENST00000647717.1:n.4215T>C
ENST00000648016.1:c.3046T>C
ENST00000648038.1:c.4473T>C	ENSP00000497872.1:p.Tyr1491=
ENST00000648212.1:c.3619T>C
ENST00000648266.1:c.6684T>C	ENSP00000498014.1:p.Tyr2228=
ENST00000648309.1:c.6639T>C	ENSP00000497026.1:p.Tyr2213=
ENST00000648390.1:c.447-58097T>C
ENST00000648431.1:c.4013T>C
ENST00000648510.1:n.545T>C
ENST00000649015.2:c.6711T>C MANE Select	ENSP00000497605.1:p.Tyr2237=
ENST00000649144.1:n.1759T>C
ENST00000649272.1:n.273T>C
ENST00000649694.1:n.4196T>C
ENST00000650294.1:c.6669T>C	ENSP00000498056.1:p.Tyr2223=
ENST00000302640.12:c.6666T>C	ENSP00000306253.8:p.Tyr2222=
ENST00000354582.10:c.6711T>C	ENSP00000346595.7:p.Tyr2237=
ENST00000357086.9:c.6567T>C	ENSP00000349597.4:p.Tyr2189=
ENST00000443694.3:c.6666T>C	ENSP00000401671.2:p.Tyr2222=
ENST00000456211.7:c.6522T>C	ENSP00000397885.2:p.Tyr2174=
ENST00000544951.5:c.997-18061T>C	ENSP00000440564.1:n.997-18061T>C
NM_001099952.2:c.6567T>C	NP_001093422.2:p.Tyr2189=
NM_001168272.1:c.6666T>C	NP_001161744.1:p.Tyr2222=
NM_002222.5:c.6522T>C	NP_002213.5:p.Tyr2174=
XM_005265109.2:c.6642T>C	XP_005265166.1:p.Tyr2214=
XM_005265110.2:c.6594T>C	XP_005265167.1:p.Tyr2198=
XM_006713131.2:c.6645T>C	XP_006713194.1:p.Tyr2215=
XM_011533681.1:c.6714T>C	XP_011531983.1:p.Tyr2238=
XM_011533682.1:c.6714T>C	XP_011531984.1:p.Tyr2238=
XM_011533683.1:c.6711T>C	XP_011531985.1:p.Tyr2237=
XM_011533684.1:c.6687T>C	XP_011531986.1:p.Tyr2229=
XM_011533685.1:c.6681T>C	XP_011531987.1:p.Tyr2227=
XM_011533686.1:c.6678T>C	XP_011531988.1:p.Tyr2226=
XM_011533687.1:c.6669T>C	XP_011531989.1:p.Tyr2223=
XM_011533688.1:c.6642T>C	XP_011531990.1:p.Tyr2214=
XM_011533689.1:c.6603T>C	XP_011531991.1:p.Tyr2201=
XM_011533690.1:c.6714T>C	XP_011531992.1:p.Tyr2238=
XM_005265109.3:c.6642T>C	XP_005265166.1:p.Tyr2214=
XM_005265110.3:c.6594T>C	XP_005265167.1:p.Tyr2198=
XM_006713131.3:c.6645T>C	XP_006713194.1:p.Tyr2215=
XM_011533682.3:c.6714T>C	XP_011531984.1:p.Tyr2238=
XM_011533683.3:c.6711T>C	XP_011531985.1:p.Tyr2237=
XM_011533684.2:c.6687T>C	XP_011531986.1:p.Tyr2229=
XM_011533685.2:c.6681T>C	XP_011531987.1:p.Tyr2227=
XM_011533686.2:c.6678T>C	XP_011531988.1:p.Tyr2226=
XM_011533687.2:c.6669T>C	XP_011531989.1:p.Tyr2223=
XM_011533688.2:c.6642T>C	XP_011531990.1:p.Tyr2214=
XM_011533690.2:c.6714T>C	XP_011531992.1:p.Tyr2238=
XM_017006357.2:c.6711T>C	XP_016861846.1:p.Tyr2237=
NM_001099952.3:c.6567T>C	NP_001093422.2:p.Tyr2189=
NM_002222.6:c.6522T>C	NP_002213.5:p.Tyr2174=
NM_001099952.4:c.6567T>C	NP_001093422.2:p.Tyr2189=
NM_001168272.2:c.6666T>C	NP_001161744.1:p.Tyr2222=
NM_001378452.1:c.6711T>C MANE Select	NP_001365381.1:p.Tyr2237=
NM_002222.7:c.6522T>C	NP_002213.5:p.Tyr2174=