Canonical Allele Identifier: CA2232662

Gene: ITPR1

Linked Data

• ClinVar Variation Id: 2782853
• ClinVar RCV Id: RCV003665727
• dbSNP Id: rs748551485
• ExAC: 3:4829786 C / T
• gnomAD v2: 3-4829786-C-T
• gnomAD v3: 3-4788102-C-T
• gnomAD v4: 3-4788102-C-T
• MyVariant Identifiers: chr3:g.4829786C>T (hg19) ; chr3:g.4788102C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788102C>T , CM000665.2:g.4788102C>T	GRCh38
NC_000003.11:g.4829786C>T , CM000665.1:g.4829786C>T	GRCh37
NC_000003.10:g.4804786C>T	NCBI36
NG_016144.1:g.299755C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6782C>T	ENSP00000306253.9:n.6782C>T
ENST00000354582.12:c.6747C>T	ENSP00000346595.8:p.Asp2249=
ENST00000443694.5:c.6726C>T	ENSP00000401671.2:p.Asp2242=
ENST00000354582.11:c.6747C>T	ENSP00000346595.8:p.Asp2249=
ENST00000357086.10:c.6627C>T	ENSP00000349597.4:p.Asp2209=
ENST00000443694.4:c.6726C>T	ENSP00000401671.2:p.Asp2242=
ENST00000456211.8:c.6582C>T	ENSP00000397885.2:p.Asp2194=
ENST00000481415.2:n.663C>T
ENST00000544951.6:c.997-18001C>T	ENSP00000440564.1:n.997-18001C>T
ENST00000647708.1:c.2670C>T
ENST00000647717.1:n.4275C>T
ENST00000648016.1:c.3106C>T
ENST00000648038.1:c.4533C>T	ENSP00000497872.1:p.Asp1511=
ENST00000648212.1:c.3679C>T
ENST00000648266.1:c.6744C>T	ENSP00000498014.1:p.Asp2248=
ENST00000648309.1:c.6699C>T	ENSP00000497026.1:p.Asp2233=
ENST00000648390.1:c.447-58037C>T
ENST00000648431.1:c.4073C>T
ENST00000648510.1:n.605C>T
ENST00000649015.2:c.6771C>T MANE Select	ENSP00000497605.1:p.Asp2257=
ENST00000649144.1:n.1819C>T
ENST00000649272.1:n.333C>T
ENST00000649694.1:n.4256C>T
ENST00000650294.1:c.6729C>T	ENSP00000498056.1:p.Asp2243=
ENST00000302640.12:c.6726C>T	ENSP00000306253.8:p.Asp2242=
ENST00000354582.10:c.6771C>T	ENSP00000346595.7:p.Asp2257=
ENST00000357086.9:c.6627C>T	ENSP00000349597.4:p.Asp2209=
ENST00000443694.3:c.6726C>T	ENSP00000401671.2:p.Asp2242=
ENST00000456211.7:c.6582C>T	ENSP00000397885.2:p.Asp2194=
ENST00000544951.5:c.997-18001C>T	ENSP00000440564.1:n.997-18001C>T
NM_001099952.2:c.6627C>T	NP_001093422.2:p.Asp2209=
NM_001168272.1:c.6726C>T	NP_001161744.1:p.Asp2242=
NM_002222.5:c.6582C>T	NP_002213.5:p.Asp2194=
XM_005265109.2:c.6702C>T	XP_005265166.1:p.Asp2234=
XM_005265110.2:c.6654C>T	XP_005265167.1:p.Asp2218=
XM_006713131.2:c.6705C>T	XP_006713194.1:p.Asp2235=
XM_011533681.1:c.6774C>T	XP_011531983.1:p.Asp2258=
XM_011533682.1:c.6774C>T	XP_011531984.1:p.Asp2258=
XM_011533683.1:c.6771C>T	XP_011531985.1:p.Asp2257=
XM_011533684.1:c.6747C>T	XP_011531986.1:p.Asp2249=
XM_011533685.1:c.6741C>T	XP_011531987.1:p.Asp2247=
XM_011533686.1:c.6738C>T	XP_011531988.1:p.Asp2246=
XM_011533687.1:c.6729C>T	XP_011531989.1:p.Asp2243=
XM_011533688.1:c.6702C>T	XP_011531990.1:p.Asp2234=
XM_011533689.1:c.6663C>T	XP_011531991.1:p.Asp2221=
XM_011533690.1:c.6774C>T	XP_011531992.1:p.Asp2258=
XM_005265109.3:c.6702C>T	XP_005265166.1:p.Asp2234=
XM_005265110.3:c.6654C>T	XP_005265167.1:p.Asp2218=
XM_006713131.3:c.6705C>T	XP_006713194.1:p.Asp2235=
XM_011533682.3:c.6774C>T	XP_011531984.1:p.Asp2258=
XM_011533683.3:c.6771C>T	XP_011531985.1:p.Asp2257=
XM_011533684.2:c.6747C>T	XP_011531986.1:p.Asp2249=
XM_011533685.2:c.6741C>T	XP_011531987.1:p.Asp2247=
XM_011533686.2:c.6738C>T	XP_011531988.1:p.Asp2246=
XM_011533687.2:c.6729C>T	XP_011531989.1:p.Asp2243=
XM_011533688.2:c.6702C>T	XP_011531990.1:p.Asp2234=
XM_011533690.2:c.6774C>T	XP_011531992.1:p.Asp2258=
XM_017006357.2:c.6771C>T	XP_016861846.1:p.Asp2257=
NM_001099952.3:c.6627C>T	NP_001093422.2:p.Asp2209=
NM_002222.6:c.6582C>T	NP_002213.5:p.Asp2194=
NM_001099952.4:c.6627C>T	NP_001093422.2:p.Asp2209=
NM_001168272.2:c.6726C>T	NP_001161744.1:p.Asp2242=
NM_001378452.1:c.6771C>T MANE Select	NP_001365381.1:p.Asp2257=
NM_002222.7:c.6582C>T	NP_002213.5:p.Asp2194=