Canonical Allele Identifier: CA153213

Gene: ITPR1

Linked Data

• ClinVar Variation Id: 129299
• ClinVar RCV Id: RCV000117300 ; RCV000323015 ; RCV001521930 ; RCV001730530 ; RCV001730529 ; RCV001730528
• dbSNP Id: rs2306877
• ExAC: 3:4716811 A / C
• gnomAD v2: 3-4716811-A-C
• gnomAD v3: 3-4675127-A-C
• gnomAD v4: 3-4675127-A-C
• MyVariant Identifiers: chr3:g.4716811A>C (hg19) ; chr3:g.4675127A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4675127A>C , CM000665.2:g.4675127A>C	GRCh38
NC_000003.11:g.4716811A>C , CM000665.1:g.4716811A>C	GRCh37
NC_000003.10:g.4691811A>C	NCBI36
NG_016144.1:g.186780A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.2658A>C	ENSP00000306253.9:p.Leu886=
ENST00000354582.12:c.2658A>C	ENSP00000346595.8:p.Leu886=
ENST00000443694.5:c.2613A>C	ENSP00000401671.2:p.Leu871=
ENST00000354582.11:c.2658A>C	ENSP00000346595.8:p.Leu886=
ENST00000357086.10:c.2658A>C	ENSP00000349597.4:p.Leu886=
ENST00000443694.4:c.2613A>C	ENSP00000401671.2:p.Leu871=
ENST00000456211.8:c.2613A>C	ENSP00000397885.2:p.Leu871=
ENST00000544951.6:c.996+21241A>C	ENSP00000440564.1:n.996+21241A>C
ENST00000647717.1:n.159A>C
ENST00000648038.1:c.495A>C	ENSP00000497872.1:p.Leu165=
ENST00000648266.1:c.2658A>C	ENSP00000498014.1:p.Leu886=
ENST00000648309.1:c.2613A>C	ENSP00000497026.1:p.Leu871=
ENST00000649015.2:c.2658A>C MANE Select	ENSP00000497605.1:p.Leu886=
ENST00000650146.1:c.296A>C
ENST00000650294.1:c.2613A>C	ENSP00000498056.1:p.Leu871=
ENST00000302640.12:c.2613A>C	ENSP00000306253.8:p.Leu871=
ENST00000354582.10:c.2658A>C	ENSP00000346595.7:p.Leu886=
ENST00000357086.9:c.2658A>C	ENSP00000349597.4:p.Leu886=
ENST00000443694.3:c.2613A>C	ENSP00000401671.2:p.Leu871=
ENST00000456211.7:c.2613A>C	ENSP00000397885.2:p.Leu871=
ENST00000544951.5:c.996+21241A>C	ENSP00000440564.1:n.996+21241A>C
NM_001099952.2:c.2658A>C	NP_001093422.2:p.Leu886=
NM_001168272.1:c.2613A>C	NP_001161744.1:p.Leu871=
NM_002222.5:c.2613A>C	NP_002213.5:p.Leu871=
XM_005265109.2:c.2658A>C	XP_005265166.1:p.Leu886=
XM_005265110.2:c.2658A>C	XP_005265167.1:p.Leu886=
XM_006713131.2:c.2658A>C	XP_006713194.1:p.Leu886=
XM_011533681.1:c.2658A>C	XP_011531983.1:p.Leu886=
XM_011533682.1:c.2658A>C	XP_011531984.1:p.Leu886=
XM_011533683.1:c.2658A>C	XP_011531985.1:p.Leu886=
XM_011533684.1:c.2658A>C	XP_011531986.1:p.Leu886=
XM_011533685.1:c.2658A>C	XP_011531987.1:p.Leu886=
XM_011533686.1:c.2658A>C	XP_011531988.1:p.Leu886=
XM_011533687.1:c.2613A>C	XP_011531989.1:p.Leu871=
XM_011533688.1:c.2613A>C	XP_011531990.1:p.Leu871=
XM_011533689.1:c.2658A>C	XP_011531991.1:p.Leu886=
XM_011533690.1:c.2658A>C	XP_011531992.1:p.Leu886=
XM_011533691.1:c.2658A>C	XP_011531993.1:p.Leu886=
XM_011533692.1:c.2658A>C	XP_011531994.1:p.Leu886=
XM_005265109.3:c.2658A>C	XP_005265166.1:p.Leu886=
XM_005265110.3:c.2658A>C	XP_005265167.1:p.Leu886=
XM_006713131.3:c.2658A>C	XP_006713194.1:p.Leu886=
XM_011533682.3:c.2658A>C	XP_011531984.1:p.Leu886=
XM_011533683.3:c.2658A>C	XP_011531985.1:p.Leu886=
XM_011533684.2:c.2658A>C	XP_011531986.1:p.Leu886=
XM_011533685.2:c.2658A>C	XP_011531987.1:p.Leu886=
XM_011533686.2:c.2658A>C	XP_011531988.1:p.Leu886=
XM_011533687.2:c.2613A>C	XP_011531989.1:p.Leu871=
XM_011533688.2:c.2613A>C	XP_011531990.1:p.Leu871=
XM_011533690.2:c.2658A>C	XP_011531992.1:p.Leu886=
XM_011533692.2:c.2658A>C	XP_011531994.1:p.Leu886=
XM_017006357.2:c.2658A>C	XP_016861846.1:p.Leu886=
XM_017006358.1:c.2658A>C	XP_016861847.1:p.Leu886=
NM_001099952.3:c.2658A>C	NP_001093422.2:p.Leu886=
NM_002222.6:c.2613A>C	NP_002213.5:p.Leu871=
NM_001099952.4:c.2658A>C	NP_001093422.2:p.Leu886=
NM_001168272.2:c.2613A>C	NP_001161744.1:p.Leu871=
NM_001378452.1:c.2658A>C MANE Select	NP_001365381.1:p.Leu886=
NM_002222.7:c.2613A>C	NP_002213.5:p.Leu871=