Canonical Allele Identifier: CA153225

Gene: ITPR1

Linked Data

• ClinVar Variation Id: 129303
• ClinVar RCV Id: RCV000117304 ; RCV000288234 ; RCV000992209 ; RCV001730535 ; RCV001730536 ; RCV001730534
• dbSNP Id: rs711631
• ExAC: 3:4856180 T / C
• gnomAD v2: 3-4856180-T-C
• gnomAD v3: 3-4814496-T-C
• gnomAD v4: 3-4814496-T-C
• MyVariant Identifiers: chr3:g.4856180T>C (hg19) ; chr3:g.4814496T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4814496T>C , CM000665.2:g.4814496T>C	GRCh38
NC_000003.11:g.4856180T>C , CM000665.1:g.4856180T>C	GRCh37
NC_000003.10:g.4831180T>C	NCBI36
NG_016144.1:g.326149T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.7646T>C	ENSP00000306253.9:n.7646T>C
ENST00000354582.12:c.7611T>C	ENSP00000346595.8:p.Thr2537=
ENST00000443694.5:c.7590T>C	ENSP00000401671.2:p.Thr2530=
ENST00000354582.11:c.7611T>C	ENSP00000346595.8:p.Thr2537=
ENST00000357086.10:c.7491T>C	ENSP00000349597.4:p.Thr2497=
ENST00000443694.4:c.7590T>C	ENSP00000401671.2:p.Thr2530=
ENST00000456211.8:c.7446T>C	ENSP00000397885.2:p.Thr2482=
ENST00000463980.6:n.952T>C
ENST00000467545.6:n.892T>C
ENST00000493491.6:n.913T>C
ENST00000544951.6:c.1524T>C	ENSP00000440564.1:p.Thr508=
ENST00000647708.1:c.3534T>C
ENST00000647717.1:n.5139T>C
ENST00000647997.1:n.655T>C
ENST00000648016.1:c.4003T>C
ENST00000648038.1:c.5397T>C	ENSP00000497872.1:p.Thr1799=
ENST00000648208.1:n.646T>C
ENST00000648212.1:c.4576T>C
ENST00000648266.1:c.7608T>C	ENSP00000498014.1:p.Thr2536=
ENST00000648309.1:c.7563T>C	ENSP00000497026.1:p.Thr2521=
ENST00000648390.1:c.447-31643T>C
ENST00000648431.1:c.4814T>C
ENST00000648770.1:n.729T>C
ENST00000649015.2:c.7635T>C MANE Select	ENSP00000497605.1:p.Thr2545=
ENST00000649144.1:n.2683T>C
ENST00000649314.1:n.763T>C
ENST00000649430.1:n.174T>C
ENST00000649694.1:n.5120T>C
ENST00000649767.1:n.967T>C
ENST00000650074.1:n.945T>C
ENST00000650139.1:n.2399T>C
ENST00000650294.1:c.7593T>C	ENSP00000498056.1:p.Thr2531=
ENST00000650552.1:n.1061T>C
ENST00000302640.12:c.7590T>C	ENSP00000306253.8:p.Thr2530=
ENST00000354582.10:c.7635T>C	ENSP00000346595.7:p.Thr2545=
ENST00000357086.9:c.7491T>C	ENSP00000349597.4:p.Thr2497=
ENST00000443694.3:c.7590T>C	ENSP00000401671.2:p.Thr2530=
ENST00000456211.7:c.7446T>C	ENSP00000397885.2:p.Thr2482=
ENST00000463980.5:n.937T>C
ENST00000472205.1:n.262T>C
ENST00000493491.5:n.913T>C
ENST00000544951.5:c.1524T>C	ENSP00000440564.1:p.Thr508=
NM_001099952.2:c.7491T>C	NP_001093422.2:p.Thr2497=
NM_001168272.1:c.7590T>C	NP_001161744.1:p.Thr2530=
NM_002222.5:c.7446T>C	NP_002213.5:p.Thr2482=
XM_005265109.2:c.7566T>C	XP_005265166.1:p.Thr2522=
XM_005265110.2:c.7518T>C	XP_005265167.1:p.Thr2506=
XM_006713131.2:c.7569T>C	XP_006713194.1:p.Thr2523=
XM_011533681.1:c.7638T>C	XP_011531983.1:p.Thr2546=
XM_011533682.1:c.7638T>C	XP_011531984.1:p.Thr2546=
XM_011533683.1:c.7635T>C	XP_011531985.1:p.Thr2545=
XM_011533684.1:c.7611T>C	XP_011531986.1:p.Thr2537=
XM_011533685.1:c.7605T>C	XP_011531987.1:p.Thr2535=
XM_011533686.1:c.7602T>C	XP_011531988.1:p.Thr2534=
XM_011533687.1:c.7593T>C	XP_011531989.1:p.Thr2531=
XM_011533688.1:c.7566T>C	XP_011531990.1:p.Thr2522=
XM_011533689.1:c.7527T>C	XP_011531991.1:p.Thr2509=
XM_011533690.1:c.7515T>C	XP_011531992.1:p.Thr2505=
XM_005265109.3:c.7566T>C	XP_005265166.1:p.Thr2522=
XM_005265110.3:c.7518T>C	XP_005265167.1:p.Thr2506=
XM_006713131.3:c.7569T>C	XP_006713194.1:p.Thr2523=
XM_011533682.3:c.7638T>C	XP_011531984.1:p.Thr2546=
XM_011533683.3:c.7635T>C	XP_011531985.1:p.Thr2545=
XM_011533684.2:c.7611T>C	XP_011531986.1:p.Thr2537=
XM_011533685.2:c.7605T>C	XP_011531987.1:p.Thr2535=
XM_011533686.2:c.7602T>C	XP_011531988.1:p.Thr2534=
XM_011533687.2:c.7593T>C	XP_011531989.1:p.Thr2531=
XM_011533688.2:c.7566T>C	XP_011531990.1:p.Thr2522=
XM_011533690.2:c.7515T>C	XP_011531992.1:p.Thr2505=
XM_017006357.2:c.7512T>C	XP_016861846.1:p.Thr2504=
NM_001099952.3:c.7491T>C	NP_001093422.2:p.Thr2497=
NM_002222.6:c.7446T>C	NP_002213.5:p.Thr2482=
NM_001099952.4:c.7491T>C	NP_001093422.2:p.Thr2497=
NM_001168272.2:c.7590T>C	NP_001161744.1:p.Thr2530=
NM_001378452.1:c.7635T>C MANE Select	NP_001365381.1:p.Thr2545=
NM_002222.7:c.7446T>C	NP_002213.5:p.Thr2482=