Canonical Allele Identifier: CA2232659

Gene: ITPR1

Linked Data

• ClinVar Variation Id: 2146538
• ClinVar RCV Id: RCV003074612
• dbSNP Id: rs751865067
• ExAC: 3:4829750 C / A
• gnomAD v2: 3-4829750-C-A
• gnomAD v3: 3-4788066-C-A
• gnomAD v4: 3-4788066-C-A
• MyVariant Identifiers: chr3:g.4829750C>A (hg19) ; chr3:g.4788066C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788066C>A , CM000665.2:g.4788066C>A	GRCh38
NC_000003.11:g.4829750C>A , CM000665.1:g.4829750C>A	GRCh37
NC_000003.10:g.4804750C>A	NCBI36
NG_016144.1:g.299719C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6746C>A	ENSP00000306253.9:n.6746C>A
ENST00000354582.12:c.6711C>A	ENSP00000346595.8:p.Gly2237=
ENST00000443694.5:c.6690C>A	ENSP00000401671.2:p.Gly2230=
ENST00000354582.11:c.6711C>A	ENSP00000346595.8:p.Gly2237=
ENST00000357086.10:c.6591C>A	ENSP00000349597.4:p.Gly2197=
ENST00000443694.4:c.6690C>A	ENSP00000401671.2:p.Gly2230=
ENST00000456211.8:c.6546C>A	ENSP00000397885.2:p.Gly2182=
ENST00000481415.2:n.627C>A
ENST00000544951.6:c.997-18037C>A	ENSP00000440564.1:n.997-18037C>A
ENST00000647708.1:c.2634C>A
ENST00000647717.1:n.4239C>A
ENST00000648016.1:c.3070C>A
ENST00000648038.1:c.4497C>A	ENSP00000497872.1:p.Gly1499=
ENST00000648212.1:c.3643C>A
ENST00000648266.1:c.6708C>A	ENSP00000498014.1:p.Gly2236=
ENST00000648309.1:c.6663C>A	ENSP00000497026.1:p.Gly2221=
ENST00000648390.1:c.447-58073C>A
ENST00000648431.1:c.4037C>A
ENST00000648510.1:n.569C>A
ENST00000649015.2:c.6735C>A MANE Select	ENSP00000497605.1:p.Gly2245=
ENST00000649144.1:n.1783C>A
ENST00000649272.1:n.297C>A
ENST00000649694.1:n.4220C>A
ENST00000650294.1:c.6693C>A	ENSP00000498056.1:p.Gly2231=
ENST00000302640.12:c.6690C>A	ENSP00000306253.8:p.Gly2230=
ENST00000354582.10:c.6735C>A	ENSP00000346595.7:p.Gly2245=
ENST00000357086.9:c.6591C>A	ENSP00000349597.4:p.Gly2197=
ENST00000443694.3:c.6690C>A	ENSP00000401671.2:p.Gly2230=
ENST00000456211.7:c.6546C>A	ENSP00000397885.2:p.Gly2182=
ENST00000544951.5:c.997-18037C>A	ENSP00000440564.1:n.997-18037C>A
NM_001099952.2:c.6591C>A	NP_001093422.2:p.Gly2197=
NM_001168272.1:c.6690C>A	NP_001161744.1:p.Gly2230=
NM_002222.5:c.6546C>A	NP_002213.5:p.Gly2182=
XM_005265109.2:c.6666C>A	XP_005265166.1:p.Gly2222=
XM_005265110.2:c.6618C>A	XP_005265167.1:p.Gly2206=
XM_006713131.2:c.6669C>A	XP_006713194.1:p.Gly2223=
XM_011533681.1:c.6738C>A	XP_011531983.1:p.Gly2246=
XM_011533682.1:c.6738C>A	XP_011531984.1:p.Gly2246=
XM_011533683.1:c.6735C>A	XP_011531985.1:p.Gly2245=
XM_011533684.1:c.6711C>A	XP_011531986.1:p.Gly2237=
XM_011533685.1:c.6705C>A	XP_011531987.1:p.Gly2235=
XM_011533686.1:c.6702C>A	XP_011531988.1:p.Gly2234=
XM_011533687.1:c.6693C>A	XP_011531989.1:p.Gly2231=
XM_011533688.1:c.6666C>A	XP_011531990.1:p.Gly2222=
XM_011533689.1:c.6627C>A	XP_011531991.1:p.Gly2209=
XM_011533690.1:c.6738C>A	XP_011531992.1:p.Gly2246=
XM_005265109.3:c.6666C>A	XP_005265166.1:p.Gly2222=
XM_005265110.3:c.6618C>A	XP_005265167.1:p.Gly2206=
XM_006713131.3:c.6669C>A	XP_006713194.1:p.Gly2223=
XM_011533682.3:c.6738C>A	XP_011531984.1:p.Gly2246=
XM_011533683.3:c.6735C>A	XP_011531985.1:p.Gly2245=
XM_011533684.2:c.6711C>A	XP_011531986.1:p.Gly2237=
XM_011533685.2:c.6705C>A	XP_011531987.1:p.Gly2235=
XM_011533686.2:c.6702C>A	XP_011531988.1:p.Gly2234=
XM_011533687.2:c.6693C>A	XP_011531989.1:p.Gly2231=
XM_011533688.2:c.6666C>A	XP_011531990.1:p.Gly2222=
XM_011533690.2:c.6738C>A	XP_011531992.1:p.Gly2246=
XM_017006357.2:c.6735C>A	XP_016861846.1:p.Gly2245=
NM_001099952.3:c.6591C>A	NP_001093422.2:p.Gly2197=
NM_002222.6:c.6546C>A	NP_002213.5:p.Gly2182=
NM_001099952.4:c.6591C>A	NP_001093422.2:p.Gly2197=
NM_001168272.2:c.6690C>A	NP_001161744.1:p.Gly2230=
NM_001378452.1:c.6735C>A MANE Select	NP_001365381.1:p.Gly2245=
NM_002222.7:c.6546C>A	NP_002213.5:p.Gly2182=