Canonical Allele Identifier: CA351640539

Gene: ITPR1

Linked Data

• gnomAD v4: 3-4788000-A-G
• MyVariant Identifiers: chr3:g.4829684A>G (hg19) ; chr3:g.4788000A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788000A>G , CM000665.2:g.4788000A>G	GRCh38
NC_000003.11:g.4829684A>G , CM000665.1:g.4829684A>G	GRCh37
NC_000003.10:g.4804684A>G	NCBI36
NG_016144.1:g.299653A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6680A>G	ENSP00000306253.9:n.6680A>G
ENST00000354582.12:c.6645A>G	ENSP00000346595.8:p.Ile2215Met
ENST00000443694.5:c.6624A>G	ENSP00000401671.2:p.Ile2208Met
ENST00000354582.11:c.6645A>G	ENSP00000346595.8:p.Ile2215Met
ENST00000357086.10:c.6525A>G	ENSP00000349597.4:p.Ile2175Met
ENST00000443694.4:c.6624A>G	ENSP00000401671.2:p.Ile2208Met
ENST00000456211.8:c.6480A>G	ENSP00000397885.2:p.Ile2160Met
ENST00000481415.2:n.561A>G
ENST00000544951.6:c.997-18103A>G	ENSP00000440564.1:n.997-18103A>G
ENST00000647708.1:c.2568A>G
ENST00000647717.1:n.4173A>G
ENST00000648016.1:c.3004A>G
ENST00000648038.1:c.4431A>G	ENSP00000497872.1:p.Ile1477Met
ENST00000648212.1:c.3577A>G
ENST00000648266.1:c.6642A>G	ENSP00000498014.1:p.Ile2214Met
ENST00000648309.1:c.6597A>G	ENSP00000497026.1:p.Ile2199Met
ENST00000648390.1:c.447-58139A>G
ENST00000648431.1:c.3971A>G
ENST00000648510.1:n.503A>G
ENST00000649015.2:c.6669A>G MANE Select	ENSP00000497605.1:p.Ile2223Met
ENST00000649144.1:n.1717A>G
ENST00000649272.1:n.231A>G
ENST00000649694.1:n.4154A>G
ENST00000650294.1:c.6627A>G	ENSP00000498056.1:p.Ile2209Met
ENST00000302640.12:c.6624A>G	ENSP00000306253.8:p.Ile2208Met
ENST00000354582.10:c.6669A>G	ENSP00000346595.7:p.Ile2223Met
ENST00000357086.9:c.6525A>G	ENSP00000349597.4:p.Ile2175Met
ENST00000443694.3:c.6624A>G	ENSP00000401671.2:p.Ile2208Met
ENST00000456211.7:c.6480A>G	ENSP00000397885.2:p.Ile2160Met
ENST00000544951.5:c.997-18103A>G	ENSP00000440564.1:n.997-18103A>G
NM_001099952.2:c.6525A>G	NP_001093422.2:p.Ile2175Met
NM_001168272.1:c.6624A>G	NP_001161744.1:p.Ile2208Met
NM_002222.5:c.6480A>G	NP_002213.5:p.Ile2160Met
XM_005265109.2:c.6600A>G	XP_005265166.1:p.Ile2200Met
XM_005265110.2:c.6552A>G	XP_005265167.1:p.Ile2184Met
XM_006713131.2:c.6603A>G	XP_006713194.1:p.Ile2201Met
XM_011533681.1:c.6672A>G	XP_011531983.1:p.Ile2224Met
XM_011533682.1:c.6672A>G	XP_011531984.1:p.Ile2224Met
XM_011533683.1:c.6669A>G	XP_011531985.1:p.Ile2223Met
XM_011533684.1:c.6645A>G	XP_011531986.1:p.Ile2215Met
XM_011533685.1:c.6639A>G	XP_011531987.1:p.Ile2213Met
XM_011533686.1:c.6636A>G	XP_011531988.1:p.Ile2212Met
XM_011533687.1:c.6627A>G	XP_011531989.1:p.Ile2209Met
XM_011533688.1:c.6600A>G	XP_011531990.1:p.Ile2200Met
XM_011533689.1:c.6561A>G	XP_011531991.1:p.Ile2187Met
XM_011533690.1:c.6672A>G	XP_011531992.1:p.Ile2224Met
XM_005265109.3:c.6600A>G	XP_005265166.1:p.Ile2200Met
XM_005265110.3:c.6552A>G	XP_005265167.1:p.Ile2184Met
XM_006713131.3:c.6603A>G	XP_006713194.1:p.Ile2201Met
XM_011533682.3:c.6672A>G	XP_011531984.1:p.Ile2224Met
XM_011533683.3:c.6669A>G	XP_011531985.1:p.Ile2223Met
XM_011533684.2:c.6645A>G	XP_011531986.1:p.Ile2215Met
XM_011533685.2:c.6639A>G	XP_011531987.1:p.Ile2213Met
XM_011533686.2:c.6636A>G	XP_011531988.1:p.Ile2212Met
XM_011533687.2:c.6627A>G	XP_011531989.1:p.Ile2209Met
XM_011533688.2:c.6600A>G	XP_011531990.1:p.Ile2200Met
XM_011533690.2:c.6672A>G	XP_011531992.1:p.Ile2224Met
XM_017006357.2:c.6669A>G	XP_016861846.1:p.Ile2223Met
NM_001099952.3:c.6525A>G	NP_001093422.2:p.Ile2175Met
NM_002222.6:c.6480A>G	NP_002213.5:p.Ile2160Met
NM_001099952.4:c.6525A>G	NP_001093422.2:p.Ile2175Met
NM_001168272.2:c.6624A>G	NP_001161744.1:p.Ile2208Met
NM_001378452.1:c.6669A>G MANE Select	NP_001365381.1:p.Ile2223Met
NM_002222.7:c.6480A>G	NP_002213.5:p.Ile2160Met