Canonical Allele Identifier: CA10581498

Gene: ITPR1

Linked Data

• ClinVar Variation Id: 235923
• ClinVar RCV Id: RCV000224996 ; RCV001531555
• dbSNP Id: rs752281590
• MyVariant Identifiers: chr3:g.4856205G>C (hg19) ; chr3:g.4814521G>C (hg38)
• PubMed: PMID:27108798 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4814521G>C , CM000665.2:g.4814521G>C	GRCh38
NC_000003.11:g.4856205G>C , CM000665.1:g.4856205G>C	GRCh37
NC_000003.10:g.4831205G>C	NCBI36
NG_016144.1:g.326174G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.7671G>C	ENSP00000306253.9:n.7671G>C
ENST00000354582.12:c.7636G>C	ENSP00000346595.8:p.Gly2546Arg
ENST00000443694.5:c.7615G>C	ENSP00000401671.2:p.Gly2539Arg
ENST00000354582.11:c.7636G>C	ENSP00000346595.8:p.Gly2546Arg
ENST00000357086.10:c.7516G>C	ENSP00000349597.4:p.Gly2506Arg
ENST00000443694.4:c.7615G>C	ENSP00000401671.2:p.Gly2539Arg
ENST00000456211.8:c.7471G>C	ENSP00000397885.2:p.Gly2491Arg
ENST00000463980.6:n.977G>C
ENST00000467545.6:n.917G>C
ENST00000493491.6:n.938G>C
ENST00000544951.6:c.1549G>C	ENSP00000440564.1:p.Gly517Arg
ENST00000647708.1:c.3559G>C
ENST00000647717.1:n.5164G>C
ENST00000647997.1:n.680G>C
ENST00000648016.1:c.4028G>C
ENST00000648038.1:c.5422G>C	ENSP00000497872.1:p.Gly1808Arg
ENST00000648208.1:n.671G>C
ENST00000648212.1:c.4601G>C
ENST00000648266.1:c.7633G>C	ENSP00000498014.1:p.Gly2545Arg
ENST00000648309.1:c.7588G>C	ENSP00000497026.1:p.Gly2530Arg
ENST00000648390.1:c.447-31618G>C
ENST00000648431.1:c.4839G>C
ENST00000648770.1:n.754G>C
ENST00000649015.2:c.7660G>C MANE Select	ENSP00000497605.1:p.Gly2554Arg
ENST00000649144.1:n.2708G>C
ENST00000649314.1:n.788G>C
ENST00000649430.1:n.199G>C
ENST00000649694.1:n.5145G>C
ENST00000649767.1:n.992G>C
ENST00000650074.1:n.970G>C
ENST00000650139.1:n.2424G>C
ENST00000650294.1:c.7618G>C	ENSP00000498056.1:p.Gly2540Arg
ENST00000650552.1:n.1086G>C
ENST00000302640.12:c.7615G>C	ENSP00000306253.8:p.Gly2539Arg
ENST00000354582.10:c.7660G>C	ENSP00000346595.7:p.Gly2554Arg
ENST00000357086.9:c.7516G>C	ENSP00000349597.4:p.Gly2506Arg
ENST00000443694.3:c.7615G>C	ENSP00000401671.2:p.Gly2539Arg
ENST00000456211.7:c.7471G>C	ENSP00000397885.2:p.Gly2491Arg
ENST00000463980.5:n.962G>C
ENST00000472205.1:n.287G>C
ENST00000493491.5:n.938G>C
ENST00000544951.5:c.1549G>C	ENSP00000440564.1:p.Gly517Arg
NM_001099952.2:c.7516G>C	NP_001093422.2:p.Gly2506Arg
NM_001168272.1:c.7615G>C	NP_001161744.1:p.Gly2539Arg
NM_002222.5:c.7471G>C	NP_002213.5:p.Gly2491Arg
XM_005265109.2:c.7591G>C	XP_005265166.1:p.Gly2531Arg
XM_005265110.2:c.7543G>C	XP_005265167.1:p.Gly2515Arg
XM_006713131.2:c.7594G>C	XP_006713194.1:p.Gly2532Arg
XM_011533681.1:c.7663G>C	XP_011531983.1:p.Gly2555Arg
XM_011533682.1:c.7663G>C	XP_011531984.1:p.Gly2555Arg
XM_011533683.1:c.7660G>C	XP_011531985.1:p.Gly2554Arg
XM_011533684.1:c.7636G>C	XP_011531986.1:p.Gly2546Arg
XM_011533685.1:c.7630G>C	XP_011531987.1:p.Gly2544Arg
XM_011533686.1:c.7627G>C	XP_011531988.1:p.Gly2543Arg
XM_011533687.1:c.7618G>C	XP_011531989.1:p.Gly2540Arg
XM_011533688.1:c.7591G>C	XP_011531990.1:p.Gly2531Arg
XM_011533689.1:c.7552G>C	XP_011531991.1:p.Gly2518Arg
XM_011533690.1:c.7540G>C	XP_011531992.1:p.Gly2514Arg
XM_005265109.3:c.7591G>C	XP_005265166.1:p.Gly2531Arg
XM_005265110.3:c.7543G>C	XP_005265167.1:p.Gly2515Arg
XM_006713131.3:c.7594G>C	XP_006713194.1:p.Gly2532Arg
XM_011533682.3:c.7663G>C	XP_011531984.1:p.Gly2555Arg
XM_011533683.3:c.7660G>C	XP_011531985.1:p.Gly2554Arg
XM_011533684.2:c.7636G>C	XP_011531986.1:p.Gly2546Arg
XM_011533685.2:c.7630G>C	XP_011531987.1:p.Gly2544Arg
XM_011533686.2:c.7627G>C	XP_011531988.1:p.Gly2543Arg
XM_011533687.2:c.7618G>C	XP_011531989.1:p.Gly2540Arg
XM_011533688.2:c.7591G>C	XP_011531990.1:p.Gly2531Arg
XM_011533690.2:c.7540G>C	XP_011531992.1:p.Gly2514Arg
XM_017006357.2:c.7537G>C	XP_016861846.1:p.Gly2513Arg
NM_001099952.3:c.7516G>C	NP_001093422.2:p.Gly2506Arg
NM_002222.6:c.7471G>C	NP_002213.5:p.Gly2491Arg
NM_001099952.4:c.7516G>C	NP_001093422.2:p.Gly2506Arg
NM_001168272.2:c.7615G>C	NP_001161744.1:p.Gly2539Arg
NM_001378452.1:c.7660G>C MANE Select	NP_001365381.1:p.Gly2554Arg
NM_002222.7:c.7471G>C	NP_002213.5:p.Gly2491Arg