Canonical Allele Identifier: CA432322413

Gene: ITPR1

Linked Data

• gnomAD v4: 3-4787967-A-G
• MyVariant Identifiers: chr3:g.4829651A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4787967A>G , CM000665.2:g.4787967A>G	GRCh38
NC_000003.11:g.4829651A>G , CM000665.1:g.4829651A>G	GRCh37
NC_000003.10:g.4804651A>G	NCBI36
NG_016144.1:g.299620A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6647A>G	ENSP00000306253.9:n.6647A>G
ENST00000354582.12:c.6612A>G	ENSP00000346595.8:p.Thr2204=
ENST00000443694.5:c.6591A>G	ENSP00000401671.2:p.Thr2197=
ENST00000354582.11:c.6612A>G	ENSP00000346595.8:p.Thr2204=
ENST00000357086.10:c.6492A>G	ENSP00000349597.4:p.Thr2164=
ENST00000443694.4:c.6591A>G	ENSP00000401671.2:p.Thr2197=
ENST00000456211.8:c.6447A>G	ENSP00000397885.2:p.Thr2149=
ENST00000481415.2:n.528A>G
ENST00000544951.6:c.997-18136A>G	ENSP00000440564.1:n.997-18136A>G
ENST00000647708.1:c.2535A>G
ENST00000647717.1:n.4140A>G
ENST00000648016.1:c.2971A>G
ENST00000648038.1:c.4398A>G	ENSP00000497872.1:p.Thr1466=
ENST00000648212.1:c.3544A>G
ENST00000648266.1:c.6609A>G	ENSP00000498014.1:p.Thr2203=
ENST00000648309.1:c.6564A>G	ENSP00000497026.1:p.Thr2188=
ENST00000648390.1:c.447-58172A>G
ENST00000648431.1:c.3938A>G
ENST00000648510.1:n.470A>G
ENST00000649015.2:c.6636A>G MANE Select	ENSP00000497605.1:p.Thr2212=
ENST00000649144.1:n.1684A>G
ENST00000649272.1:n.198A>G
ENST00000649694.1:n.4121A>G
ENST00000650294.1:c.6594A>G	ENSP00000498056.1:p.Thr2198=
ENST00000302640.12:c.6591A>G	ENSP00000306253.8:p.Thr2197=
ENST00000354582.10:c.6636A>G	ENSP00000346595.7:p.Thr2212=
ENST00000357086.9:c.6492A>G	ENSP00000349597.4:p.Thr2164=
ENST00000443694.3:c.6591A>G	ENSP00000401671.2:p.Thr2197=
ENST00000456211.7:c.6447A>G	ENSP00000397885.2:p.Thr2149=
ENST00000481415.1:n.528A>G
ENST00000544951.5:c.997-18136A>G	ENSP00000440564.1:n.997-18136A>G
NM_001099952.2:c.6492A>G	NP_001093422.2:p.Thr2164=
NM_001168272.1:c.6591A>G	NP_001161744.1:p.Thr2197=
NM_002222.5:c.6447A>G	NP_002213.5:p.Thr2149=
XM_005265109.2:c.6567A>G	XP_005265166.1:p.Thr2189=
XM_005265110.2:c.6519A>G	XP_005265167.1:p.Thr2173=
XM_006713131.2:c.6570A>G	XP_006713194.1:p.Thr2190=
XM_011533681.1:c.6639A>G	XP_011531983.1:p.Thr2213=
XM_011533682.1:c.6639A>G	XP_011531984.1:p.Thr2213=
XM_011533683.1:c.6636A>G	XP_011531985.1:p.Thr2212=
XM_011533684.1:c.6612A>G	XP_011531986.1:p.Thr2204=
XM_011533685.1:c.6606A>G	XP_011531987.1:p.Thr2202=
XM_011533686.1:c.6603A>G	XP_011531988.1:p.Thr2201=
XM_011533687.1:c.6594A>G	XP_011531989.1:p.Thr2198=
XM_011533688.1:c.6567A>G	XP_011531990.1:p.Thr2189=
XM_011533689.1:c.6528A>G	XP_011531991.1:p.Thr2176=
XM_011533690.1:c.6639A>G	XP_011531992.1:p.Thr2213=
XM_005265109.3:c.6567A>G	XP_005265166.1:p.Thr2189=
XM_005265110.3:c.6519A>G	XP_005265167.1:p.Thr2173=
XM_006713131.3:c.6570A>G	XP_006713194.1:p.Thr2190=
XM_011533682.3:c.6639A>G	XP_011531984.1:p.Thr2213=
XM_011533683.3:c.6636A>G	XP_011531985.1:p.Thr2212=
XM_011533684.2:c.6612A>G	XP_011531986.1:p.Thr2204=
XM_011533685.2:c.6606A>G	XP_011531987.1:p.Thr2202=
XM_011533686.2:c.6603A>G	XP_011531988.1:p.Thr2201=
XM_011533687.2:c.6594A>G	XP_011531989.1:p.Thr2198=
XM_011533688.2:c.6567A>G	XP_011531990.1:p.Thr2189=
XM_011533690.2:c.6639A>G	XP_011531992.1:p.Thr2213=
XM_017006357.2:c.6636A>G	XP_016861846.1:p.Thr2212=
NM_001099952.3:c.6492A>G	NP_001093422.2:p.Thr2164=
NM_002222.6:c.6447A>G	NP_002213.5:p.Thr2149=
NM_001099952.4:c.6492A>G	NP_001093422.2:p.Thr2164=
NM_001168272.2:c.6591A>G	NP_001161744.1:p.Thr2197=
NM_001378452.1:c.6636A>G MANE Select	NP_001365381.1:p.Thr2212=
NM_002222.7:c.6447A>G	NP_002213.5:p.Thr2149=