Canonical Allele Identifier: CA351640695

Gene: ITPR1

Linked Data

• MyVariant Identifiers: chr3:g.4829752G>T (hg19) ; chr3:g.4788068G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788068G>T , CM000665.2:g.4788068G>T	GRCh38
NC_000003.11:g.4829752G>T , CM000665.1:g.4829752G>T	GRCh37
NC_000003.10:g.4804752G>T	NCBI36
NG_016144.1:g.299721G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6748G>T	ENSP00000306253.9:n.6748G>T
ENST00000354582.12:c.6713G>T	ENSP00000346595.8:p.Ser2238Ile
ENST00000443694.5:c.6692G>T	ENSP00000401671.2:p.Ser2231Ile
ENST00000354582.11:c.6713G>T	ENSP00000346595.8:p.Ser2238Ile
ENST00000357086.10:c.6593G>T	ENSP00000349597.4:p.Ser2198Ile
ENST00000443694.4:c.6692G>T	ENSP00000401671.2:p.Ser2231Ile
ENST00000456211.8:c.6548G>T	ENSP00000397885.2:p.Ser2183Ile
ENST00000481415.2:n.629G>T
ENST00000544951.6:c.997-18035G>T	ENSP00000440564.1:n.997-18035G>T
ENST00000647708.1:c.2636G>T
ENST00000647717.1:n.4241G>T
ENST00000648016.1:c.3072G>T
ENST00000648038.1:c.4499G>T	ENSP00000497872.1:p.Ser1500Ile
ENST00000648212.1:c.3645G>T
ENST00000648266.1:c.6710G>T	ENSP00000498014.1:p.Ser2237Ile
ENST00000648309.1:c.6665G>T	ENSP00000497026.1:p.Ser2222Ile
ENST00000648390.1:c.447-58071G>T
ENST00000648431.1:c.4039G>T
ENST00000648510.1:n.571G>T
ENST00000649015.2:c.6737G>T MANE Select	ENSP00000497605.1:p.Ser2246Ile
ENST00000649144.1:n.1785G>T
ENST00000649272.1:n.299G>T
ENST00000649694.1:n.4222G>T
ENST00000650294.1:c.6695G>T	ENSP00000498056.1:p.Ser2232Ile
ENST00000302640.12:c.6692G>T	ENSP00000306253.8:p.Ser2231Ile
ENST00000354582.10:c.6737G>T	ENSP00000346595.7:p.Ser2246Ile
ENST00000357086.9:c.6593G>T	ENSP00000349597.4:p.Ser2198Ile
ENST00000443694.3:c.6692G>T	ENSP00000401671.2:p.Ser2231Ile
ENST00000456211.7:c.6548G>T	ENSP00000397885.2:p.Ser2183Ile
ENST00000544951.5:c.997-18035G>T	ENSP00000440564.1:n.997-18035G>T
NM_001099952.2:c.6593G>T	NP_001093422.2:p.Ser2198Ile
NM_001168272.1:c.6692G>T	NP_001161744.1:p.Ser2231Ile
NM_002222.5:c.6548G>T	NP_002213.5:p.Ser2183Ile
XM_005265109.2:c.6668G>T	XP_005265166.1:p.Ser2223Ile
XM_005265110.2:c.6620G>T	XP_005265167.1:p.Ser2207Ile
XM_006713131.2:c.6671G>T	XP_006713194.1:p.Ser2224Ile
XM_011533681.1:c.6740G>T	XP_011531983.1:p.Ser2247Ile
XM_011533682.1:c.6740G>T	XP_011531984.1:p.Ser2247Ile
XM_011533683.1:c.6737G>T	XP_011531985.1:p.Ser2246Ile
XM_011533684.1:c.6713G>T	XP_011531986.1:p.Ser2238Ile
XM_011533685.1:c.6707G>T	XP_011531987.1:p.Ser2236Ile
XM_011533686.1:c.6704G>T	XP_011531988.1:p.Ser2235Ile
XM_011533687.1:c.6695G>T	XP_011531989.1:p.Ser2232Ile
XM_011533688.1:c.6668G>T	XP_011531990.1:p.Ser2223Ile
XM_011533689.1:c.6629G>T	XP_011531991.1:p.Ser2210Ile
XM_011533690.1:c.6740G>T	XP_011531992.1:p.Ser2247Ile
XM_005265109.3:c.6668G>T	XP_005265166.1:p.Ser2223Ile
XM_005265110.3:c.6620G>T	XP_005265167.1:p.Ser2207Ile
XM_006713131.3:c.6671G>T	XP_006713194.1:p.Ser2224Ile
XM_011533682.3:c.6740G>T	XP_011531984.1:p.Ser2247Ile
XM_011533683.3:c.6737G>T	XP_011531985.1:p.Ser2246Ile
XM_011533684.2:c.6713G>T	XP_011531986.1:p.Ser2238Ile
XM_011533685.2:c.6707G>T	XP_011531987.1:p.Ser2236Ile
XM_011533686.2:c.6704G>T	XP_011531988.1:p.Ser2235Ile
XM_011533687.2:c.6695G>T	XP_011531989.1:p.Ser2232Ile
XM_011533688.2:c.6668G>T	XP_011531990.1:p.Ser2223Ile
XM_011533690.2:c.6740G>T	XP_011531992.1:p.Ser2247Ile
XM_017006357.2:c.6737G>T	XP_016861846.1:p.Ser2246Ile
NM_001099952.3:c.6593G>T	NP_001093422.2:p.Ser2198Ile
NM_002222.6:c.6548G>T	NP_002213.5:p.Ser2183Ile
NM_001099952.4:c.6593G>T	NP_001093422.2:p.Ser2198Ile
NM_001168272.2:c.6692G>T	NP_001161744.1:p.Ser2231Ile
NM_001378452.1:c.6737G>T MANE Select	NP_001365381.1:p.Ser2246Ile
NM_002222.7:c.6548G>T	NP_002213.5:p.Ser2183Ile