Canonical Allele Identifier: CA351640547

Gene: ITPR1

Linked Data

• MyVariant Identifiers: chr3:g.4829687T>G (hg19) ; chr3:g.4788003T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788003T>G , CM000665.2:g.4788003T>G	GRCh38
NC_000003.11:g.4829687T>G , CM000665.1:g.4829687T>G	GRCh37
NC_000003.10:g.4804687T>G	NCBI36
NG_016144.1:g.299656T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6683T>G	ENSP00000306253.9:n.6683T>G
ENST00000354582.12:c.6648T>G	ENSP00000346595.8:p.Cys2216Trp
ENST00000443694.5:c.6627T>G	ENSP00000401671.2:p.Cys2209Trp
ENST00000354582.11:c.6648T>G	ENSP00000346595.8:p.Cys2216Trp
ENST00000357086.10:c.6528T>G	ENSP00000349597.4:p.Cys2176Trp
ENST00000443694.4:c.6627T>G	ENSP00000401671.2:p.Cys2209Trp
ENST00000456211.8:c.6483T>G	ENSP00000397885.2:p.Cys2161Trp
ENST00000481415.2:n.564T>G
ENST00000544951.6:c.997-18100T>G	ENSP00000440564.1:n.997-18100T>G
ENST00000647708.1:c.2571T>G
ENST00000647717.1:n.4176T>G
ENST00000648016.1:c.3007T>G
ENST00000648038.1:c.4434T>G	ENSP00000497872.1:p.Cys1478Trp
ENST00000648212.1:c.3580T>G
ENST00000648266.1:c.6645T>G	ENSP00000498014.1:p.Cys2215Trp
ENST00000648309.1:c.6600T>G	ENSP00000497026.1:p.Cys2200Trp
ENST00000648390.1:c.447-58136T>G
ENST00000648431.1:c.3974T>G
ENST00000648510.1:n.506T>G
ENST00000649015.2:c.6672T>G MANE Select	ENSP00000497605.1:p.Cys2224Trp
ENST00000649144.1:n.1720T>G
ENST00000649272.1:n.234T>G
ENST00000649694.1:n.4157T>G
ENST00000650294.1:c.6630T>G	ENSP00000498056.1:p.Cys2210Trp
ENST00000302640.12:c.6627T>G	ENSP00000306253.8:p.Cys2209Trp
ENST00000354582.10:c.6672T>G	ENSP00000346595.7:p.Cys2224Trp
ENST00000357086.9:c.6528T>G	ENSP00000349597.4:p.Cys2176Trp
ENST00000443694.3:c.6627T>G	ENSP00000401671.2:p.Cys2209Trp
ENST00000456211.7:c.6483T>G	ENSP00000397885.2:p.Cys2161Trp
ENST00000544951.5:c.997-18100T>G	ENSP00000440564.1:n.997-18100T>G
NM_001099952.2:c.6528T>G	NP_001093422.2:p.Cys2176Trp
NM_001168272.1:c.6627T>G	NP_001161744.1:p.Cys2209Trp
NM_002222.5:c.6483T>G	NP_002213.5:p.Cys2161Trp
XM_005265109.2:c.6603T>G	XP_005265166.1:p.Cys2201Trp
XM_005265110.2:c.6555T>G	XP_005265167.1:p.Cys2185Trp
XM_006713131.2:c.6606T>G	XP_006713194.1:p.Cys2202Trp
XM_011533681.1:c.6675T>G	XP_011531983.1:p.Cys2225Trp
XM_011533682.1:c.6675T>G	XP_011531984.1:p.Cys2225Trp
XM_011533683.1:c.6672T>G	XP_011531985.1:p.Cys2224Trp
XM_011533684.1:c.6648T>G	XP_011531986.1:p.Cys2216Trp
XM_011533685.1:c.6642T>G	XP_011531987.1:p.Cys2214Trp
XM_011533686.1:c.6639T>G	XP_011531988.1:p.Cys2213Trp
XM_011533687.1:c.6630T>G	XP_011531989.1:p.Cys2210Trp
XM_011533688.1:c.6603T>G	XP_011531990.1:p.Cys2201Trp
XM_011533689.1:c.6564T>G	XP_011531991.1:p.Cys2188Trp
XM_011533690.1:c.6675T>G	XP_011531992.1:p.Cys2225Trp
XM_005265109.3:c.6603T>G	XP_005265166.1:p.Cys2201Trp
XM_005265110.3:c.6555T>G	XP_005265167.1:p.Cys2185Trp
XM_006713131.3:c.6606T>G	XP_006713194.1:p.Cys2202Trp
XM_011533682.3:c.6675T>G	XP_011531984.1:p.Cys2225Trp
XM_011533683.3:c.6672T>G	XP_011531985.1:p.Cys2224Trp
XM_011533684.2:c.6648T>G	XP_011531986.1:p.Cys2216Trp
XM_011533685.2:c.6642T>G	XP_011531987.1:p.Cys2214Trp
XM_011533686.2:c.6639T>G	XP_011531988.1:p.Cys2213Trp
XM_011533687.2:c.6630T>G	XP_011531989.1:p.Cys2210Trp
XM_011533688.2:c.6603T>G	XP_011531990.1:p.Cys2201Trp
XM_011533690.2:c.6675T>G	XP_011531992.1:p.Cys2225Trp
XM_017006357.2:c.6672T>G	XP_016861846.1:p.Cys2224Trp
NM_001099952.3:c.6528T>G	NP_001093422.2:p.Cys2176Trp
NM_002222.6:c.6483T>G	NP_002213.5:p.Cys2161Trp
NM_001099952.4:c.6528T>G	NP_001093422.2:p.Cys2176Trp
NM_001168272.2:c.6627T>G	NP_001161744.1:p.Cys2209Trp
NM_001378452.1:c.6672T>G MANE Select	NP_001365381.1:p.Cys2224Trp
NM_002222.7:c.6483T>G	NP_002213.5:p.Cys2161Trp