Canonical Allele Identifier: CA351640519

Gene: ITPR1

Linked Data

• MyVariant Identifiers: chr3:g.4829674T>A (hg19) ; chr3:g.4787990T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4787990T>A , CM000665.2:g.4787990T>A	GRCh38
NC_000003.11:g.4829674T>A , CM000665.1:g.4829674T>A	GRCh37
NC_000003.10:g.4804674T>A	NCBI36
NG_016144.1:g.299643T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6670T>A	ENSP00000306253.9:n.6670T>A
ENST00000354582.12:c.6635T>A	ENSP00000346595.8:p.Val2212Glu
ENST00000443694.5:c.6614T>A	ENSP00000401671.2:p.Val2205Glu
ENST00000354582.11:c.6635T>A	ENSP00000346595.8:p.Val2212Glu
ENST00000357086.10:c.6515T>A	ENSP00000349597.4:p.Val2172Glu
ENST00000443694.4:c.6614T>A	ENSP00000401671.2:p.Val2205Glu
ENST00000456211.8:c.6470T>A	ENSP00000397885.2:p.Val2157Glu
ENST00000481415.2:n.551T>A
ENST00000544951.6:c.997-18113T>A	ENSP00000440564.1:n.997-18113T>A
ENST00000647708.1:c.2558T>A
ENST00000647717.1:n.4163T>A
ENST00000648016.1:c.2994T>A
ENST00000648038.1:c.4421T>A	ENSP00000497872.1:p.Val1474Glu
ENST00000648212.1:c.3567T>A
ENST00000648266.1:c.6632T>A	ENSP00000498014.1:p.Val2211Glu
ENST00000648309.1:c.6587T>A	ENSP00000497026.1:p.Val2196Glu
ENST00000648390.1:c.447-58149T>A
ENST00000648431.1:c.3961T>A
ENST00000648510.1:n.493T>A
ENST00000649015.2:c.6659T>A MANE Select	ENSP00000497605.1:p.Val2220Glu
ENST00000649144.1:n.1707T>A
ENST00000649272.1:n.221T>A
ENST00000649694.1:n.4144T>A
ENST00000650294.1:c.6617T>A	ENSP00000498056.1:p.Val2206Glu
ENST00000302640.12:c.6614T>A	ENSP00000306253.8:p.Val2205Glu
ENST00000354582.10:c.6659T>A	ENSP00000346595.7:p.Val2220Glu
ENST00000357086.9:c.6515T>A	ENSP00000349597.4:p.Val2172Glu
ENST00000443694.3:c.6614T>A	ENSP00000401671.2:p.Val2205Glu
ENST00000456211.7:c.6470T>A	ENSP00000397885.2:p.Val2157Glu
ENST00000481415.1:n.551T>A
ENST00000544951.5:c.997-18113T>A	ENSP00000440564.1:n.997-18113T>A
NM_001099952.2:c.6515T>A	NP_001093422.2:p.Val2172Glu
NM_001168272.1:c.6614T>A	NP_001161744.1:p.Val2205Glu
NM_002222.5:c.6470T>A	NP_002213.5:p.Val2157Glu
XM_005265109.2:c.6590T>A	XP_005265166.1:p.Val2197Glu
XM_005265110.2:c.6542T>A	XP_005265167.1:p.Val2181Glu
XM_006713131.2:c.6593T>A	XP_006713194.1:p.Val2198Glu
XM_011533681.1:c.6662T>A	XP_011531983.1:p.Val2221Glu
XM_011533682.1:c.6662T>A	XP_011531984.1:p.Val2221Glu
XM_011533683.1:c.6659T>A	XP_011531985.1:p.Val2220Glu
XM_011533684.1:c.6635T>A	XP_011531986.1:p.Val2212Glu
XM_011533685.1:c.6629T>A	XP_011531987.1:p.Val2210Glu
XM_011533686.1:c.6626T>A	XP_011531988.1:p.Val2209Glu
XM_011533687.1:c.6617T>A	XP_011531989.1:p.Val2206Glu
XM_011533688.1:c.6590T>A	XP_011531990.1:p.Val2197Glu
XM_011533689.1:c.6551T>A	XP_011531991.1:p.Val2184Glu
XM_011533690.1:c.6662T>A	XP_011531992.1:p.Val2221Glu
XM_005265109.3:c.6590T>A	XP_005265166.1:p.Val2197Glu
XM_005265110.3:c.6542T>A	XP_005265167.1:p.Val2181Glu
XM_006713131.3:c.6593T>A	XP_006713194.1:p.Val2198Glu
XM_011533682.3:c.6662T>A	XP_011531984.1:p.Val2221Glu
XM_011533683.3:c.6659T>A	XP_011531985.1:p.Val2220Glu
XM_011533684.2:c.6635T>A	XP_011531986.1:p.Val2212Glu
XM_011533685.2:c.6629T>A	XP_011531987.1:p.Val2210Glu
XM_011533686.2:c.6626T>A	XP_011531988.1:p.Val2209Glu
XM_011533687.2:c.6617T>A	XP_011531989.1:p.Val2206Glu
XM_011533688.2:c.6590T>A	XP_011531990.1:p.Val2197Glu
XM_011533690.2:c.6662T>A	XP_011531992.1:p.Val2221Glu
XM_017006357.2:c.6659T>A	XP_016861846.1:p.Val2220Glu
NM_001099952.3:c.6515T>A	NP_001093422.2:p.Val2172Glu
NM_002222.6:c.6470T>A	NP_002213.5:p.Val2157Glu
NM_001099952.4:c.6515T>A	NP_001093422.2:p.Val2172Glu
NM_001168272.2:c.6614T>A	NP_001161744.1:p.Val2205Glu
NM_001378452.1:c.6659T>A MANE Select	NP_001365381.1:p.Val2220Glu
NM_002222.7:c.6470T>A	NP_002213.5:p.Val2157Glu