Canonical Allele Identifier: CA351638319

Gene: ITPR1

Linked Data

• MyVariant Identifiers: chr3:g.4821274G>A (hg19) ; chr3:g.4779590G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4779590G>A , CM000665.2:g.4779590G>A	GRCh38
NC_000003.11:g.4821274G>A , CM000665.1:g.4821274G>A	GRCh37
NC_000003.10:g.4796274G>A	NCBI36
NG_016144.1:g.291243G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6343G>A	ENSP00000306253.9:n.6343G>A
ENST00000354582.12:c.6308G>A	ENSP00000346595.8:p.Arg2103Lys
ENST00000443694.5:c.6287G>A	ENSP00000401671.2:p.Arg2096Lys
ENST00000354582.11:c.6308G>A	ENSP00000346595.8:p.Arg2103Lys
ENST00000357086.10:c.6188G>A	ENSP00000349597.4:p.Arg2063Lys
ENST00000443694.4:c.6287G>A	ENSP00000401671.2:p.Arg2096Lys
ENST00000456211.8:c.6143G>A	ENSP00000397885.2:p.Arg2048Lys
ENST00000544951.6:c.997-26513G>A	ENSP00000440564.1:n.997-26513G>A
ENST00000647708.1:c.2231G>A
ENST00000647717.1:n.3836G>A
ENST00000648016.1:c.2667G>A
ENST00000648038.1:c.4094G>A	ENSP00000497872.1:p.Arg1365Lys
ENST00000648212.1:c.3240G>A
ENST00000648266.1:c.6305G>A	ENSP00000498014.1:p.Arg2102Lys
ENST00000648309.1:c.6260G>A	ENSP00000497026.1:p.Arg2087Lys
ENST00000648390.1:c.447-66549G>A
ENST00000648431.1:c.3634G>A
ENST00000648510.1:n.166G>A
ENST00000649015.2:c.6332G>A MANE Select	ENSP00000497605.1:p.Arg2111Lys
ENST00000649144.1:n.1380G>A
ENST00000649694.1:n.3817G>A
ENST00000650294.1:c.6290G>A	ENSP00000498056.1:p.Arg2097Lys
ENST00000302640.12:c.6287G>A	ENSP00000306253.8:p.Arg2096Lys
ENST00000354582.10:c.6332G>A	ENSP00000346595.7:p.Arg2111Lys
ENST00000357086.9:c.6188G>A	ENSP00000349597.4:p.Arg2063Lys
ENST00000443694.3:c.6287G>A	ENSP00000401671.2:p.Arg2096Lys
ENST00000456211.7:c.6143G>A	ENSP00000397885.2:p.Arg2048Lys
ENST00000544951.5:c.997-26513G>A	ENSP00000440564.1:n.997-26513G>A
NM_001099952.2:c.6188G>A	NP_001093422.2:p.Arg2063Lys
NM_001168272.1:c.6287G>A	NP_001161744.1:p.Arg2096Lys
NM_002222.5:c.6143G>A	NP_002213.5:p.Arg2048Lys
XM_005265109.2:c.6263G>A	XP_005265166.1:p.Arg2088Lys
XM_005265110.2:c.6215G>A	XP_005265167.1:p.Arg2072Lys
XM_006713131.2:c.6266G>A	XP_006713194.1:p.Arg2089Lys
XM_011533681.1:c.6335G>A	XP_011531983.1:p.Arg2112Lys
XM_011533682.1:c.6335G>A	XP_011531984.1:p.Arg2112Lys
XM_011533683.1:c.6332G>A	XP_011531985.1:p.Arg2111Lys
XM_011533684.1:c.6308G>A	XP_011531986.1:p.Arg2103Lys
XM_011533685.1:c.6302G>A	XP_011531987.1:p.Arg2101Lys
XM_011533686.1:c.6299G>A	XP_011531988.1:p.Arg2100Lys
XM_011533687.1:c.6290G>A	XP_011531989.1:p.Arg2097Lys
XM_011533688.1:c.6263G>A	XP_011531990.1:p.Arg2088Lys
XM_011533689.1:c.6224G>A	XP_011531991.1:p.Arg2075Lys
XM_011533690.1:c.6335G>A	XP_011531992.1:p.Arg2112Lys
XM_005265109.3:c.6263G>A	XP_005265166.1:p.Arg2088Lys
XM_005265110.3:c.6215G>A	XP_005265167.1:p.Arg2072Lys
XM_006713131.3:c.6266G>A	XP_006713194.1:p.Arg2089Lys
XM_011533682.3:c.6335G>A	XP_011531984.1:p.Arg2112Lys
XM_011533683.3:c.6332G>A	XP_011531985.1:p.Arg2111Lys
XM_011533684.2:c.6308G>A	XP_011531986.1:p.Arg2103Lys
XM_011533685.2:c.6302G>A	XP_011531987.1:p.Arg2101Lys
XM_011533686.2:c.6299G>A	XP_011531988.1:p.Arg2100Lys
XM_011533687.2:c.6290G>A	XP_011531989.1:p.Arg2097Lys
XM_011533688.2:c.6263G>A	XP_011531990.1:p.Arg2088Lys
XM_011533690.2:c.6335G>A	XP_011531992.1:p.Arg2112Lys
XM_017006357.2:c.6332G>A	XP_016861846.1:p.Arg2111Lys
NM_001099952.3:c.6188G>A	NP_001093422.2:p.Arg2063Lys
NM_002222.6:c.6143G>A	NP_002213.5:p.Arg2048Lys
NM_001099952.4:c.6188G>A	NP_001093422.2:p.Arg2063Lys
NM_001168272.2:c.6287G>A	NP_001161744.1:p.Arg2096Lys
NM_001378452.1:c.6332G>A MANE Select	NP_001365381.1:p.Arg2111Lys
NM_002222.7:c.6143G>A	NP_002213.5:p.Arg2048Lys