Canonical Allele Identifier: CA351640610

Gene: ITPR1

Linked Data

• gnomAD v4: 3-4788031-C-T
• COSMIC: COSM4118163 ; COSM4118164 ; COSM4118165
• MyVariant Identifiers: chr3:g.4829715C>T (hg19) ; chr3:g.4788031C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788031C>T , CM000665.2:g.4788031C>T	GRCh38
NC_000003.11:g.4829715C>T , CM000665.1:g.4829715C>T	GRCh37
NC_000003.10:g.4804715C>T	NCBI36
NG_016144.1:g.299684C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6711C>T	ENSP00000306253.9:n.6711C>T
ENST00000354582.12:c.6676C>T	ENSP00000346595.8:p.Arg2226Ter
ENST00000443694.5:c.6655C>T	ENSP00000401671.2:p.Arg2219Ter
ENST00000354582.11:c.6676C>T	ENSP00000346595.8:p.Arg2226Ter
ENST00000357086.10:c.6556C>T	ENSP00000349597.4:p.Arg2186Ter
ENST00000443694.4:c.6655C>T	ENSP00000401671.2:p.Arg2219Ter
ENST00000456211.8:c.6511C>T	ENSP00000397885.2:p.Arg2171Ter
ENST00000481415.2:n.592C>T
ENST00000544951.6:c.997-18072C>T	ENSP00000440564.1:n.997-18072C>T
ENST00000647708.1:c.2599C>T
ENST00000647717.1:n.4204C>T
ENST00000648016.1:c.3035C>T
ENST00000648038.1:c.4462C>T	ENSP00000497872.1:p.Arg1488Ter
ENST00000648212.1:c.3608C>T
ENST00000648266.1:c.6673C>T	ENSP00000498014.1:p.Arg2225Ter
ENST00000648309.1:c.6628C>T	ENSP00000497026.1:p.Arg2210Ter
ENST00000648390.1:c.447-58108C>T
ENST00000648431.1:c.4002C>T
ENST00000648510.1:n.534C>T
ENST00000649015.2:c.6700C>T MANE Select	ENSP00000497605.1:p.Arg2234Ter
ENST00000649144.1:n.1748C>T
ENST00000649272.1:n.262C>T
ENST00000649694.1:n.4185C>T
ENST00000650294.1:c.6658C>T	ENSP00000498056.1:p.Arg2220Ter
ENST00000302640.12:c.6655C>T	ENSP00000306253.8:p.Arg2219Ter
ENST00000354582.10:c.6700C>T	ENSP00000346595.7:p.Arg2234Ter
ENST00000357086.9:c.6556C>T	ENSP00000349597.4:p.Arg2186Ter
ENST00000443694.3:c.6655C>T	ENSP00000401671.2:p.Arg2219Ter
ENST00000456211.7:c.6511C>T	ENSP00000397885.2:p.Arg2171Ter
ENST00000544951.5:c.997-18072C>T	ENSP00000440564.1:n.997-18072C>T
NM_001099952.2:c.6556C>T	NP_001093422.2:p.Arg2186Ter
NM_001168272.1:c.6655C>T	NP_001161744.1:p.Arg2219Ter
NM_002222.5:c.6511C>T	NP_002213.5:p.Arg2171Ter
XM_005265109.2:c.6631C>T	XP_005265166.1:p.Arg2211Ter
XM_005265110.2:c.6583C>T	XP_005265167.1:p.Arg2195Ter
XM_006713131.2:c.6634C>T	XP_006713194.1:p.Arg2212Ter
XM_011533681.1:c.6703C>T	XP_011531983.1:p.Arg2235Ter
XM_011533682.1:c.6703C>T	XP_011531984.1:p.Arg2235Ter
XM_011533683.1:c.6700C>T	XP_011531985.1:p.Arg2234Ter
XM_011533684.1:c.6676C>T	XP_011531986.1:p.Arg2226Ter
XM_011533685.1:c.6670C>T	XP_011531987.1:p.Arg2224Ter
XM_011533686.1:c.6667C>T	XP_011531988.1:p.Arg2223Ter
XM_011533687.1:c.6658C>T	XP_011531989.1:p.Arg2220Ter
XM_011533688.1:c.6631C>T	XP_011531990.1:p.Arg2211Ter
XM_011533689.1:c.6592C>T	XP_011531991.1:p.Arg2198Ter
XM_011533690.1:c.6703C>T	XP_011531992.1:p.Arg2235Ter
XM_005265109.3:c.6631C>T	XP_005265166.1:p.Arg2211Ter
XM_005265110.3:c.6583C>T	XP_005265167.1:p.Arg2195Ter
XM_006713131.3:c.6634C>T	XP_006713194.1:p.Arg2212Ter
XM_011533682.3:c.6703C>T	XP_011531984.1:p.Arg2235Ter
XM_011533683.3:c.6700C>T	XP_011531985.1:p.Arg2234Ter
XM_011533684.2:c.6676C>T	XP_011531986.1:p.Arg2226Ter
XM_011533685.2:c.6670C>T	XP_011531987.1:p.Arg2224Ter
XM_011533686.2:c.6667C>T	XP_011531988.1:p.Arg2223Ter
XM_011533687.2:c.6658C>T	XP_011531989.1:p.Arg2220Ter
XM_011533688.2:c.6631C>T	XP_011531990.1:p.Arg2211Ter
XM_011533690.2:c.6703C>T	XP_011531992.1:p.Arg2235Ter
XM_017006357.2:c.6700C>T	XP_016861846.1:p.Arg2234Ter
NM_001099952.3:c.6556C>T	NP_001093422.2:p.Arg2186Ter
NM_002222.6:c.6511C>T	NP_002213.5:p.Arg2171Ter
NM_001099952.4:c.6556C>T	NP_001093422.2:p.Arg2186Ter
NM_001168272.2:c.6655C>T	NP_001161744.1:p.Arg2219Ter
NM_001378452.1:c.6700C>T MANE Select	NP_001365381.1:p.Arg2234Ter
NM_002222.7:c.6511C>T	NP_002213.5:p.Arg2171Ter