Canonical Allele Identifier: CA351640630

Gene: ITPR1

Linked Data

• dbSNP Id: rs1280509849
• gnomAD v2: 3-4829724-T-G
• gnomAD v4: 3-4788040-T-G
• MyVariant Identifiers: chr3:g.4829724T>G (hg19) ; chr3:g.4788040T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788040T>G , CM000665.2:g.4788040T>G	GRCh38
NC_000003.11:g.4829724T>G , CM000665.1:g.4829724T>G	GRCh37
NC_000003.10:g.4804724T>G	NCBI36
NG_016144.1:g.299693T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6720T>G	ENSP00000306253.9:n.6720T>G
ENST00000354582.12:c.6685T>G	ENSP00000346595.8:p.Tyr2229Asp
ENST00000443694.5:c.6664T>G	ENSP00000401671.2:p.Tyr2222Asp
ENST00000354582.11:c.6685T>G	ENSP00000346595.8:p.Tyr2229Asp
ENST00000357086.10:c.6565T>G	ENSP00000349597.4:p.Tyr2189Asp
ENST00000443694.4:c.6664T>G	ENSP00000401671.2:p.Tyr2222Asp
ENST00000456211.8:c.6520T>G	ENSP00000397885.2:p.Tyr2174Asp
ENST00000481415.2:n.601T>G
ENST00000544951.6:c.997-18063T>G	ENSP00000440564.1:n.997-18063T>G
ENST00000647708.1:c.2608T>G
ENST00000647717.1:n.4213T>G
ENST00000648016.1:c.3044T>G
ENST00000648038.1:c.4471T>G	ENSP00000497872.1:p.Tyr1491Asp
ENST00000648212.1:c.3617T>G
ENST00000648266.1:c.6682T>G	ENSP00000498014.1:p.Tyr2228Asp
ENST00000648309.1:c.6637T>G	ENSP00000497026.1:p.Tyr2213Asp
ENST00000648390.1:c.447-58099T>G
ENST00000648431.1:c.4011T>G
ENST00000648510.1:n.543T>G
ENST00000649015.2:c.6709T>G MANE Select	ENSP00000497605.1:p.Tyr2237Asp
ENST00000649144.1:n.1757T>G
ENST00000649272.1:n.271T>G
ENST00000649694.1:n.4194T>G
ENST00000650294.1:c.6667T>G	ENSP00000498056.1:p.Tyr2223Asp
ENST00000302640.12:c.6664T>G	ENSP00000306253.8:p.Tyr2222Asp
ENST00000354582.10:c.6709T>G	ENSP00000346595.7:p.Tyr2237Asp
ENST00000357086.9:c.6565T>G	ENSP00000349597.4:p.Tyr2189Asp
ENST00000443694.3:c.6664T>G	ENSP00000401671.2:p.Tyr2222Asp
ENST00000456211.7:c.6520T>G	ENSP00000397885.2:p.Tyr2174Asp
ENST00000544951.5:c.997-18063T>G	ENSP00000440564.1:n.997-18063T>G
NM_001099952.2:c.6565T>G	NP_001093422.2:p.Tyr2189Asp
NM_001168272.1:c.6664T>G	NP_001161744.1:p.Tyr2222Asp
NM_002222.5:c.6520T>G	NP_002213.5:p.Tyr2174Asp
XM_005265109.2:c.6640T>G	XP_005265166.1:p.Tyr2214Asp
XM_005265110.2:c.6592T>G	XP_005265167.1:p.Tyr2198Asp
XM_006713131.2:c.6643T>G	XP_006713194.1:p.Tyr2215Asp
XM_011533681.1:c.6712T>G	XP_011531983.1:p.Tyr2238Asp
XM_011533682.1:c.6712T>G	XP_011531984.1:p.Tyr2238Asp
XM_011533683.1:c.6709T>G	XP_011531985.1:p.Tyr2237Asp
XM_011533684.1:c.6685T>G	XP_011531986.1:p.Tyr2229Asp
XM_011533685.1:c.6679T>G	XP_011531987.1:p.Tyr2227Asp
XM_011533686.1:c.6676T>G	XP_011531988.1:p.Tyr2226Asp
XM_011533687.1:c.6667T>G	XP_011531989.1:p.Tyr2223Asp
XM_011533688.1:c.6640T>G	XP_011531990.1:p.Tyr2214Asp
XM_011533689.1:c.6601T>G	XP_011531991.1:p.Tyr2201Asp
XM_011533690.1:c.6712T>G	XP_011531992.1:p.Tyr2238Asp
XM_005265109.3:c.6640T>G	XP_005265166.1:p.Tyr2214Asp
XM_005265110.3:c.6592T>G	XP_005265167.1:p.Tyr2198Asp
XM_006713131.3:c.6643T>G	XP_006713194.1:p.Tyr2215Asp
XM_011533682.3:c.6712T>G	XP_011531984.1:p.Tyr2238Asp
XM_011533683.3:c.6709T>G	XP_011531985.1:p.Tyr2237Asp
XM_011533684.2:c.6685T>G	XP_011531986.1:p.Tyr2229Asp
XM_011533685.2:c.6679T>G	XP_011531987.1:p.Tyr2227Asp
XM_011533686.2:c.6676T>G	XP_011531988.1:p.Tyr2226Asp
XM_011533687.2:c.6667T>G	XP_011531989.1:p.Tyr2223Asp
XM_011533688.2:c.6640T>G	XP_011531990.1:p.Tyr2214Asp
XM_011533690.2:c.6712T>G	XP_011531992.1:p.Tyr2238Asp
XM_017006357.2:c.6709T>G	XP_016861846.1:p.Tyr2237Asp
NM_001099952.3:c.6565T>G	NP_001093422.2:p.Tyr2189Asp
NM_002222.6:c.6520T>G	NP_002213.5:p.Tyr2174Asp
NM_001099952.4:c.6565T>G	NP_001093422.2:p.Tyr2189Asp
NM_001168272.2:c.6664T>G	NP_001161744.1:p.Tyr2222Asp
NM_001378452.1:c.6709T>G MANE Select	NP_001365381.1:p.Tyr2237Asp
NM_002222.7:c.6520T>G	NP_002213.5:p.Tyr2174Asp