Canonical Allele Identifier: CA351640490

Gene: ITPR1

Linked Data

• ClinVar Variation Id: 2241765
• ClinVar RCV Id: RCV002767272
• MyVariant Identifiers: chr3:g.4829661A>G (hg19) ; chr3:g.4787977A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4787977A>G , CM000665.2:g.4787977A>G	GRCh38
NC_000003.11:g.4829661A>G , CM000665.1:g.4829661A>G	GRCh37
NC_000003.10:g.4804661A>G	NCBI36
NG_016144.1:g.299630A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6657A>G	ENSP00000306253.9:n.6657A>G
ENST00000354582.12:c.6622A>G	ENSP00000346595.8:p.Ile2208Val
ENST00000443694.5:c.6601A>G	ENSP00000401671.2:p.Ile2201Val
ENST00000354582.11:c.6622A>G	ENSP00000346595.8:p.Ile2208Val
ENST00000357086.10:c.6502A>G	ENSP00000349597.4:p.Ile2168Val
ENST00000443694.4:c.6601A>G	ENSP00000401671.2:p.Ile2201Val
ENST00000456211.8:c.6457A>G	ENSP00000397885.2:p.Ile2153Val
ENST00000481415.2:n.538A>G
ENST00000544951.6:c.997-18126A>G	ENSP00000440564.1:n.997-18126A>G
ENST00000647708.1:c.2545A>G
ENST00000647717.1:n.4150A>G
ENST00000648016.1:c.2981A>G
ENST00000648038.1:c.4408A>G	ENSP00000497872.1:p.Ile1470Val
ENST00000648212.1:c.3554A>G
ENST00000648266.1:c.6619A>G	ENSP00000498014.1:p.Ile2207Val
ENST00000648309.1:c.6574A>G	ENSP00000497026.1:p.Ile2192Val
ENST00000648390.1:c.447-58162A>G
ENST00000648431.1:c.3948A>G
ENST00000648510.1:n.480A>G
ENST00000649015.2:c.6646A>G MANE Select	ENSP00000497605.1:p.Ile2216Val
ENST00000649144.1:n.1694A>G
ENST00000649272.1:n.208A>G
ENST00000649694.1:n.4131A>G
ENST00000650294.1:c.6604A>G	ENSP00000498056.1:p.Ile2202Val
ENST00000302640.12:c.6601A>G	ENSP00000306253.8:p.Ile2201Val
ENST00000354582.10:c.6646A>G	ENSP00000346595.7:p.Ile2216Val
ENST00000357086.9:c.6502A>G	ENSP00000349597.4:p.Ile2168Val
ENST00000443694.3:c.6601A>G	ENSP00000401671.2:p.Ile2201Val
ENST00000456211.7:c.6457A>G	ENSP00000397885.2:p.Ile2153Val
ENST00000481415.1:n.538A>G
ENST00000544951.5:c.997-18126A>G	ENSP00000440564.1:n.997-18126A>G
NM_001099952.2:c.6502A>G	NP_001093422.2:p.Ile2168Val
NM_001168272.1:c.6601A>G	NP_001161744.1:p.Ile2201Val
NM_002222.5:c.6457A>G	NP_002213.5:p.Ile2153Val
XM_005265109.2:c.6577A>G	XP_005265166.1:p.Ile2193Val
XM_005265110.2:c.6529A>G	XP_005265167.1:p.Ile2177Val
XM_006713131.2:c.6580A>G	XP_006713194.1:p.Ile2194Val
XM_011533681.1:c.6649A>G	XP_011531983.1:p.Ile2217Val
XM_011533682.1:c.6649A>G	XP_011531984.1:p.Ile2217Val
XM_011533683.1:c.6646A>G	XP_011531985.1:p.Ile2216Val
XM_011533684.1:c.6622A>G	XP_011531986.1:p.Ile2208Val
XM_011533685.1:c.6616A>G	XP_011531987.1:p.Ile2206Val
XM_011533686.1:c.6613A>G	XP_011531988.1:p.Ile2205Val
XM_011533687.1:c.6604A>G	XP_011531989.1:p.Ile2202Val
XM_011533688.1:c.6577A>G	XP_011531990.1:p.Ile2193Val
XM_011533689.1:c.6538A>G	XP_011531991.1:p.Ile2180Val
XM_011533690.1:c.6649A>G	XP_011531992.1:p.Ile2217Val
XM_005265109.3:c.6577A>G	XP_005265166.1:p.Ile2193Val
XM_005265110.3:c.6529A>G	XP_005265167.1:p.Ile2177Val
XM_006713131.3:c.6580A>G	XP_006713194.1:p.Ile2194Val
XM_011533682.3:c.6649A>G	XP_011531984.1:p.Ile2217Val
XM_011533683.3:c.6646A>G	XP_011531985.1:p.Ile2216Val
XM_011533684.2:c.6622A>G	XP_011531986.1:p.Ile2208Val
XM_011533685.2:c.6616A>G	XP_011531987.1:p.Ile2206Val
XM_011533686.2:c.6613A>G	XP_011531988.1:p.Ile2205Val
XM_011533687.2:c.6604A>G	XP_011531989.1:p.Ile2202Val
XM_011533688.2:c.6577A>G	XP_011531990.1:p.Ile2193Val
XM_011533690.2:c.6649A>G	XP_011531992.1:p.Ile2217Val
XM_017006357.2:c.6646A>G	XP_016861846.1:p.Ile2216Val
NM_001099952.3:c.6502A>G	NP_001093422.2:p.Ile2168Val
NM_002222.6:c.6457A>G	NP_002213.5:p.Ile2153Val
NM_001099952.4:c.6502A>G	NP_001093422.2:p.Ile2168Val
NM_001168272.2:c.6601A>G	NP_001161744.1:p.Ile2201Val
NM_001378452.1:c.6646A>G MANE Select	NP_001365381.1:p.Ile2216Val
NM_002222.7:c.6457A>G	NP_002213.5:p.Ile2153Val