Canonical Allele Identifier: CA2232648

Gene: ITPR1

Linked Data

• dbSNP Id: rs770530675
• ExAC: 3:4829676 C / G
• gnomAD v2: 3-4829676-C-G
• gnomAD v4: 3-4787992-C-G
• MyVariant Identifiers: chr3:g.4829676C>G (hg19) ; chr3:g.4787992C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4787992C>G , CM000665.2:g.4787992C>G	GRCh38
NC_000003.11:g.4829676C>G , CM000665.1:g.4829676C>G	GRCh37
NC_000003.10:g.4804676C>G	NCBI36
NG_016144.1:g.299645C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6672C>G	ENSP00000306253.9:n.6672C>G
ENST00000354582.12:c.6637C>G	ENSP00000346595.8:p.Pro2213Ala
ENST00000443694.5:c.6616C>G	ENSP00000401671.2:p.Pro2206Ala
ENST00000354582.11:c.6637C>G	ENSP00000346595.8:p.Pro2213Ala
ENST00000357086.10:c.6517C>G	ENSP00000349597.4:p.Pro2173Ala
ENST00000443694.4:c.6616C>G	ENSP00000401671.2:p.Pro2206Ala
ENST00000456211.8:c.6472C>G	ENSP00000397885.2:p.Pro2158Ala
ENST00000481415.2:n.553C>G
ENST00000544951.6:c.997-18111C>G	ENSP00000440564.1:n.997-18111C>G
ENST00000647708.1:c.2560C>G
ENST00000647717.1:n.4165C>G
ENST00000648016.1:c.2996C>G
ENST00000648038.1:c.4423C>G	ENSP00000497872.1:p.Pro1475Ala
ENST00000648212.1:c.3569C>G
ENST00000648266.1:c.6634C>G	ENSP00000498014.1:p.Pro2212Ala
ENST00000648309.1:c.6589C>G	ENSP00000497026.1:p.Pro2197Ala
ENST00000648390.1:c.447-58147C>G
ENST00000648431.1:c.3963C>G
ENST00000648510.1:n.495C>G
ENST00000649015.2:c.6661C>G MANE Select	ENSP00000497605.1:p.Pro2221Ala
ENST00000649144.1:n.1709C>G
ENST00000649272.1:n.223C>G
ENST00000649694.1:n.4146C>G
ENST00000650294.1:c.6619C>G	ENSP00000498056.1:p.Pro2207Ala
ENST00000302640.12:c.6616C>G	ENSP00000306253.8:p.Pro2206Ala
ENST00000354582.10:c.6661C>G	ENSP00000346595.7:p.Pro2221Ala
ENST00000357086.9:c.6517C>G	ENSP00000349597.4:p.Pro2173Ala
ENST00000443694.3:c.6616C>G	ENSP00000401671.2:p.Pro2206Ala
ENST00000456211.7:c.6472C>G	ENSP00000397885.2:p.Pro2158Ala
ENST00000544951.5:c.997-18111C>G	ENSP00000440564.1:n.997-18111C>G
NM_001099952.2:c.6517C>G	NP_001093422.2:p.Pro2173Ala
NM_001168272.1:c.6616C>G	NP_001161744.1:p.Pro2206Ala
NM_002222.5:c.6472C>G	NP_002213.5:p.Pro2158Ala
XM_005265109.2:c.6592C>G	XP_005265166.1:p.Pro2198Ala
XM_005265110.2:c.6544C>G	XP_005265167.1:p.Pro2182Ala
XM_006713131.2:c.6595C>G	XP_006713194.1:p.Pro2199Ala
XM_011533681.1:c.6664C>G	XP_011531983.1:p.Pro2222Ala
XM_011533682.1:c.6664C>G	XP_011531984.1:p.Pro2222Ala
XM_011533683.1:c.6661C>G	XP_011531985.1:p.Pro2221Ala
XM_011533684.1:c.6637C>G	XP_011531986.1:p.Pro2213Ala
XM_011533685.1:c.6631C>G	XP_011531987.1:p.Pro2211Ala
XM_011533686.1:c.6628C>G	XP_011531988.1:p.Pro2210Ala
XM_011533687.1:c.6619C>G	XP_011531989.1:p.Pro2207Ala
XM_011533688.1:c.6592C>G	XP_011531990.1:p.Pro2198Ala
XM_011533689.1:c.6553C>G	XP_011531991.1:p.Pro2185Ala
XM_011533690.1:c.6664C>G	XP_011531992.1:p.Pro2222Ala
XM_005265109.3:c.6592C>G	XP_005265166.1:p.Pro2198Ala
XM_005265110.3:c.6544C>G	XP_005265167.1:p.Pro2182Ala
XM_006713131.3:c.6595C>G	XP_006713194.1:p.Pro2199Ala
XM_011533682.3:c.6664C>G	XP_011531984.1:p.Pro2222Ala
XM_011533683.3:c.6661C>G	XP_011531985.1:p.Pro2221Ala
XM_011533684.2:c.6637C>G	XP_011531986.1:p.Pro2213Ala
XM_011533685.2:c.6631C>G	XP_011531987.1:p.Pro2211Ala
XM_011533686.2:c.6628C>G	XP_011531988.1:p.Pro2210Ala
XM_011533687.2:c.6619C>G	XP_011531989.1:p.Pro2207Ala
XM_011533688.2:c.6592C>G	XP_011531990.1:p.Pro2198Ala
XM_011533690.2:c.6664C>G	XP_011531992.1:p.Pro2222Ala
XM_017006357.2:c.6661C>G	XP_016861846.1:p.Pro2221Ala
NM_001099952.3:c.6517C>G	NP_001093422.2:p.Pro2173Ala
NM_002222.6:c.6472C>G	NP_002213.5:p.Pro2158Ala
NM_001099952.4:c.6517C>G	NP_001093422.2:p.Pro2173Ala
NM_001168272.2:c.6616C>G	NP_001161744.1:p.Pro2206Ala
NM_001378452.1:c.6661C>G MANE Select	NP_001365381.1:p.Pro2221Ala
NM_002222.7:c.6472C>G	NP_002213.5:p.Pro2158Ala