Canonical Allele Identifier: CA351640487

Gene: ITPR1

Linked Data

• dbSNP Id: rs1420919892
• gnomAD v2: 3-4829660-G-C
• gnomAD v4: 3-4787976-G-C
• MyVariant Identifiers: chr3:g.4829660G>C (hg19) ; chr3:g.4787976G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4787976G>C , CM000665.2:g.4787976G>C	GRCh38
NC_000003.11:g.4829660G>C , CM000665.1:g.4829660G>C	GRCh37
NC_000003.10:g.4804660G>C	NCBI36
NG_016144.1:g.299629G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6656G>C	ENSP00000306253.9:n.6656G>C
ENST00000354582.12:c.6621G>C	ENSP00000346595.8:p.Gln2207His
ENST00000443694.5:c.6600G>C	ENSP00000401671.2:p.Gln2200His
ENST00000354582.11:c.6621G>C	ENSP00000346595.8:p.Gln2207His
ENST00000357086.10:c.6501G>C	ENSP00000349597.4:p.Gln2167His
ENST00000443694.4:c.6600G>C	ENSP00000401671.2:p.Gln2200His
ENST00000456211.8:c.6456G>C	ENSP00000397885.2:p.Gln2152His
ENST00000481415.2:n.537G>C
ENST00000544951.6:c.997-18127G>C	ENSP00000440564.1:n.997-18127G>C
ENST00000647708.1:c.2544G>C
ENST00000647717.1:n.4149G>C
ENST00000648016.1:c.2980G>C
ENST00000648038.1:c.4407G>C	ENSP00000497872.1:p.Gln1469His
ENST00000648212.1:c.3553G>C
ENST00000648266.1:c.6618G>C	ENSP00000498014.1:p.Gln2206His
ENST00000648309.1:c.6573G>C	ENSP00000497026.1:p.Gln2191His
ENST00000648390.1:c.447-58163G>C
ENST00000648431.1:c.3947G>C
ENST00000648510.1:n.479G>C
ENST00000649015.2:c.6645G>C MANE Select	ENSP00000497605.1:p.Gln2215His
ENST00000649144.1:n.1693G>C
ENST00000649272.1:n.207G>C
ENST00000649694.1:n.4130G>C
ENST00000650294.1:c.6603G>C	ENSP00000498056.1:p.Gln2201His
ENST00000302640.12:c.6600G>C	ENSP00000306253.8:p.Gln2200His
ENST00000354582.10:c.6645G>C	ENSP00000346595.7:p.Gln2215His
ENST00000357086.9:c.6501G>C	ENSP00000349597.4:p.Gln2167His
ENST00000443694.3:c.6600G>C	ENSP00000401671.2:p.Gln2200His
ENST00000456211.7:c.6456G>C	ENSP00000397885.2:p.Gln2152His
ENST00000481415.1:n.537G>C
ENST00000544951.5:c.997-18127G>C	ENSP00000440564.1:n.997-18127G>C
NM_001099952.2:c.6501G>C	NP_001093422.2:p.Gln2167His
NM_001168272.1:c.6600G>C	NP_001161744.1:p.Gln2200His
NM_002222.5:c.6456G>C	NP_002213.5:p.Gln2152His
XM_005265109.2:c.6576G>C	XP_005265166.1:p.Gln2192His
XM_005265110.2:c.6528G>C	XP_005265167.1:p.Gln2176His
XM_006713131.2:c.6579G>C	XP_006713194.1:p.Gln2193His
XM_011533681.1:c.6648G>C	XP_011531983.1:p.Gln2216His
XM_011533682.1:c.6648G>C	XP_011531984.1:p.Gln2216His
XM_011533683.1:c.6645G>C	XP_011531985.1:p.Gln2215His
XM_011533684.1:c.6621G>C	XP_011531986.1:p.Gln2207His
XM_011533685.1:c.6615G>C	XP_011531987.1:p.Gln2205His
XM_011533686.1:c.6612G>C	XP_011531988.1:p.Gln2204His
XM_011533687.1:c.6603G>C	XP_011531989.1:p.Gln2201His
XM_011533688.1:c.6576G>C	XP_011531990.1:p.Gln2192His
XM_011533689.1:c.6537G>C	XP_011531991.1:p.Gln2179His
XM_011533690.1:c.6648G>C	XP_011531992.1:p.Gln2216His
XM_005265109.3:c.6576G>C	XP_005265166.1:p.Gln2192His
XM_005265110.3:c.6528G>C	XP_005265167.1:p.Gln2176His
XM_006713131.3:c.6579G>C	XP_006713194.1:p.Gln2193His
XM_011533682.3:c.6648G>C	XP_011531984.1:p.Gln2216His
XM_011533683.3:c.6645G>C	XP_011531985.1:p.Gln2215His
XM_011533684.2:c.6621G>C	XP_011531986.1:p.Gln2207His
XM_011533685.2:c.6615G>C	XP_011531987.1:p.Gln2205His
XM_011533686.2:c.6612G>C	XP_011531988.1:p.Gln2204His
XM_011533687.2:c.6603G>C	XP_011531989.1:p.Gln2201His
XM_011533688.2:c.6576G>C	XP_011531990.1:p.Gln2192His
XM_011533690.2:c.6648G>C	XP_011531992.1:p.Gln2216His
XM_017006357.2:c.6645G>C	XP_016861846.1:p.Gln2215His
NM_001099952.3:c.6501G>C	NP_001093422.2:p.Gln2167His
NM_002222.6:c.6456G>C	NP_002213.5:p.Gln2152His
NM_001099952.4:c.6501G>C	NP_001093422.2:p.Gln2167His
NM_001168272.2:c.6600G>C	NP_001161744.1:p.Gln2200His
NM_001378452.1:c.6645G>C MANE Select	NP_001365381.1:p.Gln2215His
NM_002222.7:c.6456G>C	NP_002213.5:p.Gln2152His