Canonical Allele Identifier: CA351649065

Gene: ITPR1

Linked Data

• ClinVar Variation Id: 520945
• ClinVar RCV Id: RCV000622722 ; RCV000764511 ; RCV000992210 ; RCV001542743
• dbSNP Id: rs1553757628
• gnomAD v4: 3-4814509-G-A
• MyVariant Identifiers: chr3:g.4856193G>A (hg19) ; chr3:g.4814509G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4814509G>A , CM000665.2:g.4814509G>A	GRCh38
NC_000003.11:g.4856193G>A , CM000665.1:g.4856193G>A	GRCh37
NC_000003.10:g.4831193G>A	NCBI36
NG_016144.1:g.326162G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.7659G>A	ENSP00000306253.9:n.7659G>A
ENST00000354582.12:c.7624G>A	ENSP00000346595.8:p.Gly2542Arg
ENST00000443694.5:c.7603G>A	ENSP00000401671.2:p.Gly2535Arg
ENST00000354582.11:c.7624G>A	ENSP00000346595.8:p.Gly2542Arg
ENST00000357086.10:c.7504G>A	ENSP00000349597.4:p.Gly2502Arg
ENST00000443694.4:c.7603G>A	ENSP00000401671.2:p.Gly2535Arg
ENST00000456211.8:c.7459G>A	ENSP00000397885.2:p.Gly2487Arg
ENST00000463980.6:n.965G>A
ENST00000467545.6:n.905G>A
ENST00000493491.6:n.926G>A
ENST00000544951.6:c.1537G>A	ENSP00000440564.1:p.Gly513Arg
ENST00000647708.1:c.3547G>A
ENST00000647717.1:n.5152G>A
ENST00000647997.1:n.668G>A
ENST00000648016.1:c.4016G>A
ENST00000648038.1:c.5410G>A	ENSP00000497872.1:p.Gly1804Arg
ENST00000648208.1:n.659G>A
ENST00000648212.1:c.4589G>A
ENST00000648266.1:c.7621G>A	ENSP00000498014.1:p.Gly2541Arg
ENST00000648309.1:c.7576G>A	ENSP00000497026.1:p.Gly2526Arg
ENST00000648390.1:c.447-31630G>A
ENST00000648431.1:c.4827G>A
ENST00000648770.1:n.742G>A
ENST00000649015.2:c.7648G>A MANE Select	ENSP00000497605.1:p.Gly2550Arg
ENST00000649144.1:n.2696G>A
ENST00000649314.1:n.776G>A
ENST00000649430.1:n.187G>A
ENST00000649694.1:n.5133G>A
ENST00000649767.1:n.980G>A
ENST00000650074.1:n.958G>A
ENST00000650139.1:n.2412G>A
ENST00000650294.1:c.7606G>A	ENSP00000498056.1:p.Gly2536Arg
ENST00000650552.1:n.1074G>A
ENST00000302640.12:c.7603G>A	ENSP00000306253.8:p.Gly2535Arg
ENST00000354582.10:c.7648G>A	ENSP00000346595.7:p.Gly2550Arg
ENST00000357086.9:c.7504G>A	ENSP00000349597.4:p.Gly2502Arg
ENST00000443694.3:c.7603G>A	ENSP00000401671.2:p.Gly2535Arg
ENST00000456211.7:c.7459G>A	ENSP00000397885.2:p.Gly2487Arg
ENST00000463980.5:n.950G>A
ENST00000472205.1:n.275G>A
ENST00000493491.5:n.926G>A
ENST00000544951.5:c.1537G>A	ENSP00000440564.1:p.Gly513Arg
NM_001099952.2:c.7504G>A	NP_001093422.2:p.Gly2502Arg
NM_001168272.1:c.7603G>A	NP_001161744.1:p.Gly2535Arg
NM_002222.5:c.7459G>A	NP_002213.5:p.Gly2487Arg
XM_005265109.2:c.7579G>A	XP_005265166.1:p.Gly2527Arg
XM_005265110.2:c.7531G>A	XP_005265167.1:p.Gly2511Arg
XM_006713131.2:c.7582G>A	XP_006713194.1:p.Gly2528Arg
XM_011533681.1:c.7651G>A	XP_011531983.1:p.Gly2551Arg
XM_011533682.1:c.7651G>A	XP_011531984.1:p.Gly2551Arg
XM_011533683.1:c.7648G>A	XP_011531985.1:p.Gly2550Arg
XM_011533684.1:c.7624G>A	XP_011531986.1:p.Gly2542Arg
XM_011533685.1:c.7618G>A	XP_011531987.1:p.Gly2540Arg
XM_011533686.1:c.7615G>A	XP_011531988.1:p.Gly2539Arg
XM_011533687.1:c.7606G>A	XP_011531989.1:p.Gly2536Arg
XM_011533688.1:c.7579G>A	XP_011531990.1:p.Gly2527Arg
XM_011533689.1:c.7540G>A	XP_011531991.1:p.Gly2514Arg
XM_011533690.1:c.7528G>A	XP_011531992.1:p.Gly2510Arg
XM_005265109.3:c.7579G>A	XP_005265166.1:p.Gly2527Arg
XM_005265110.3:c.7531G>A	XP_005265167.1:p.Gly2511Arg
XM_006713131.3:c.7582G>A	XP_006713194.1:p.Gly2528Arg
XM_011533682.3:c.7651G>A	XP_011531984.1:p.Gly2551Arg
XM_011533683.3:c.7648G>A	XP_011531985.1:p.Gly2550Arg
XM_011533684.2:c.7624G>A	XP_011531986.1:p.Gly2542Arg
XM_011533685.2:c.7618G>A	XP_011531987.1:p.Gly2540Arg
XM_011533686.2:c.7615G>A	XP_011531988.1:p.Gly2539Arg
XM_011533687.2:c.7606G>A	XP_011531989.1:p.Gly2536Arg
XM_011533688.2:c.7579G>A	XP_011531990.1:p.Gly2527Arg
XM_011533690.2:c.7528G>A	XP_011531992.1:p.Gly2510Arg
XM_017006357.2:c.7525G>A	XP_016861846.1:p.Gly2509Arg
NM_001099952.3:c.7504G>A	NP_001093422.2:p.Gly2502Arg
NM_002222.6:c.7459G>A	NP_002213.5:p.Gly2487Arg
NM_001099952.4:c.7504G>A	NP_001093422.2:p.Gly2502Arg
NM_001168272.2:c.7603G>A	NP_001161744.1:p.Gly2535Arg
NM_001378452.1:c.7648G>A MANE Select	NP_001365381.1:p.Gly2550Arg
NM_002222.7:c.7459G>A	NP_002213.5:p.Gly2487Arg