Canonical Allele Identifier: CA2232654

Gene: ITPR1

Linked Data

• ClinVar Variation Id: 1648913
• ClinVar RCV Id: RCV002141438
• dbSNP Id: rs763938511
• ExAC: 3:4829708 A / G
• gnomAD v2: 3-4829708-A-G
• gnomAD v3: 3-4788024-A-G
• gnomAD v4: 3-4788024-A-G
• MyVariant Identifiers: chr3:g.4829708A>G (hg19) ; chr3:g.4788024A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788024A>G , CM000665.2:g.4788024A>G	GRCh38
NC_000003.11:g.4829708A>G , CM000665.1:g.4829708A>G	GRCh37
NC_000003.10:g.4804708A>G	NCBI36
NG_016144.1:g.299677A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6704A>G	ENSP00000306253.9:n.6704A>G
ENST00000354582.12:c.6669A>G	ENSP00000346595.8:p.Ser2223=
ENST00000443694.5:c.6648A>G	ENSP00000401671.2:p.Ser2216=
ENST00000354582.11:c.6669A>G	ENSP00000346595.8:p.Ser2223=
ENST00000357086.10:c.6549A>G	ENSP00000349597.4:p.Ser2183=
ENST00000443694.4:c.6648A>G	ENSP00000401671.2:p.Ser2216=
ENST00000456211.8:c.6504A>G	ENSP00000397885.2:p.Ser2168=
ENST00000481415.2:n.585A>G
ENST00000544951.6:c.997-18079A>G	ENSP00000440564.1:n.997-18079A>G
ENST00000647708.1:c.2592A>G
ENST00000647717.1:n.4197A>G
ENST00000648016.1:c.3028A>G
ENST00000648038.1:c.4455A>G	ENSP00000497872.1:p.Ser1485=
ENST00000648212.1:c.3601A>G
ENST00000648266.1:c.6666A>G	ENSP00000498014.1:p.Ser2222=
ENST00000648309.1:c.6621A>G	ENSP00000497026.1:p.Ser2207=
ENST00000648390.1:c.447-58115A>G
ENST00000648431.1:c.3995A>G
ENST00000648510.1:n.527A>G
ENST00000649015.2:c.6693A>G MANE Select	ENSP00000497605.1:p.Ser2231=
ENST00000649144.1:n.1741A>G
ENST00000649272.1:n.255A>G
ENST00000649694.1:n.4178A>G
ENST00000650294.1:c.6651A>G	ENSP00000498056.1:p.Ser2217=
ENST00000302640.12:c.6648A>G	ENSP00000306253.8:p.Ser2216=
ENST00000354582.10:c.6693A>G	ENSP00000346595.7:p.Ser2231=
ENST00000357086.9:c.6549A>G	ENSP00000349597.4:p.Ser2183=
ENST00000443694.3:c.6648A>G	ENSP00000401671.2:p.Ser2216=
ENST00000456211.7:c.6504A>G	ENSP00000397885.2:p.Ser2168=
ENST00000544951.5:c.997-18079A>G	ENSP00000440564.1:n.997-18079A>G
NM_001099952.2:c.6549A>G	NP_001093422.2:p.Ser2183=
NM_001168272.1:c.6648A>G	NP_001161744.1:p.Ser2216=
NM_002222.5:c.6504A>G	NP_002213.5:p.Ser2168=
XM_005265109.2:c.6624A>G	XP_005265166.1:p.Ser2208=
XM_005265110.2:c.6576A>G	XP_005265167.1:p.Ser2192=
XM_006713131.2:c.6627A>G	XP_006713194.1:p.Ser2209=
XM_011533681.1:c.6696A>G	XP_011531983.1:p.Ser2232=
XM_011533682.1:c.6696A>G	XP_011531984.1:p.Ser2232=
XM_011533683.1:c.6693A>G	XP_011531985.1:p.Ser2231=
XM_011533684.1:c.6669A>G	XP_011531986.1:p.Ser2223=
XM_011533685.1:c.6663A>G	XP_011531987.1:p.Ser2221=
XM_011533686.1:c.6660A>G	XP_011531988.1:p.Ser2220=
XM_011533687.1:c.6651A>G	XP_011531989.1:p.Ser2217=
XM_011533688.1:c.6624A>G	XP_011531990.1:p.Ser2208=
XM_011533689.1:c.6585A>G	XP_011531991.1:p.Ser2195=
XM_011533690.1:c.6696A>G	XP_011531992.1:p.Ser2232=
XM_005265109.3:c.6624A>G	XP_005265166.1:p.Ser2208=
XM_005265110.3:c.6576A>G	XP_005265167.1:p.Ser2192=
XM_006713131.3:c.6627A>G	XP_006713194.1:p.Ser2209=
XM_011533682.3:c.6696A>G	XP_011531984.1:p.Ser2232=
XM_011533683.3:c.6693A>G	XP_011531985.1:p.Ser2231=
XM_011533684.2:c.6669A>G	XP_011531986.1:p.Ser2223=
XM_011533685.2:c.6663A>G	XP_011531987.1:p.Ser2221=
XM_011533686.2:c.6660A>G	XP_011531988.1:p.Ser2220=
XM_011533687.2:c.6651A>G	XP_011531989.1:p.Ser2217=
XM_011533688.2:c.6624A>G	XP_011531990.1:p.Ser2208=
XM_011533690.2:c.6696A>G	XP_011531992.1:p.Ser2232=
XM_017006357.2:c.6693A>G	XP_016861846.1:p.Ser2231=
NM_001099952.3:c.6549A>G	NP_001093422.2:p.Ser2183=
NM_002222.6:c.6504A>G	NP_002213.5:p.Ser2168=
NM_001099952.4:c.6549A>G	NP_001093422.2:p.Ser2183=
NM_001168272.2:c.6648A>G	NP_001161744.1:p.Ser2216=
NM_001378452.1:c.6693A>G MANE Select	NP_001365381.1:p.Ser2231=
NM_002222.7:c.6504A>G	NP_002213.5:p.Ser2168=