Canonical Allele Identifier: CA2232645

Gene: ITPR1

Linked Data

• dbSNP Id: rs139244792
• ExAC: 3:4829643 G / C
• gnomAD v2: 3-4829643-G-C
• gnomAD v3: 3-4787959-G-C
• gnomAD v4: 3-4787959-G-C
• MyVariant Identifiers: chr3:g.4829643G>C (hg19) ; chr3:g.4787959G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4787959G>C , CM000665.2:g.4787959G>C	GRCh38
NC_000003.11:g.4829643G>C , CM000665.1:g.4829643G>C	GRCh37
NC_000003.10:g.4804643G>C	NCBI36
NG_016144.1:g.299612G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000302640.13:c.6639G>C	ENSP00000306253.9:n.6639G>C
ENST00000354582.12:c.6604G>C	ENSP00000346595.8:p.Asp2202His
ENST00000443694.5:c.6583G>C	ENSP00000401671.2:p.Asp2195His
ENST00000354582.11:c.6604G>C	ENSP00000346595.8:p.Asp2202His
ENST00000357086.10:c.6484G>C	ENSP00000349597.4:p.Asp2162His
ENST00000443694.4:c.6583G>C	ENSP00000401671.2:p.Asp2195His
ENST00000456211.8:c.6439G>C	ENSP00000397885.2:p.Asp2147His
ENST00000481415.2:n.520G>C
ENST00000544951.6:c.997-18144G>C	ENSP00000440564.1:n.997-18144G>C
ENST00000647708.1:c.2527G>C
ENST00000647717.1:n.4132G>C
ENST00000648016.1:c.2963G>C
ENST00000648038.1:c.4390G>C	ENSP00000497872.1:p.Asp1464His
ENST00000648212.1:c.3536G>C
ENST00000648266.1:c.6601G>C	ENSP00000498014.1:p.Asp2201His
ENST00000648309.1:c.6556G>C	ENSP00000497026.1:p.Asp2186His
ENST00000648390.1:c.447-58180G>C
ENST00000648431.1:c.3930G>C
ENST00000648510.1:n.462G>C
ENST00000649015.2:c.6628G>C MANE Select	ENSP00000497605.1:p.Asp2210His
ENST00000649144.1:n.1676G>C
ENST00000649272.1:n.190G>C
ENST00000649694.1:n.4113G>C
ENST00000650294.1:c.6586G>C	ENSP00000498056.1:p.Asp2196His
ENST00000302640.12:c.6583G>C	ENSP00000306253.8:p.Asp2195His
ENST00000354582.10:c.6628G>C	ENSP00000346595.7:p.Asp2210His
ENST00000357086.9:c.6484G>C	ENSP00000349597.4:p.Asp2162His
ENST00000443694.3:c.6583G>C	ENSP00000401671.2:p.Asp2195His
ENST00000456211.7:c.6439G>C	ENSP00000397885.2:p.Asp2147His
ENST00000481415.1:n.520G>C
ENST00000544951.5:c.997-18144G>C	ENSP00000440564.1:n.997-18144G>C
NM_001099952.2:c.6484G>C	NP_001093422.2:p.Asp2162His
NM_001168272.1:c.6583G>C	NP_001161744.1:p.Asp2195His
NM_002222.5:c.6439G>C	NP_002213.5:p.Asp2147His
XM_005265109.2:c.6559G>C	XP_005265166.1:p.Asp2187His
XM_005265110.2:c.6511G>C	XP_005265167.1:p.Asp2171His
XM_006713131.2:c.6562G>C	XP_006713194.1:p.Asp2188His
XM_011533681.1:c.6631G>C	XP_011531983.1:p.Asp2211His
XM_011533682.1:c.6631G>C	XP_011531984.1:p.Asp2211His
XM_011533683.1:c.6628G>C	XP_011531985.1:p.Asp2210His
XM_011533684.1:c.6604G>C	XP_011531986.1:p.Asp2202His
XM_011533685.1:c.6598G>C	XP_011531987.1:p.Asp2200His
XM_011533686.1:c.6595G>C	XP_011531988.1:p.Asp2199His
XM_011533687.1:c.6586G>C	XP_011531989.1:p.Asp2196His
XM_011533688.1:c.6559G>C	XP_011531990.1:p.Asp2187His
XM_011533689.1:c.6520G>C	XP_011531991.1:p.Asp2174His
XM_011533690.1:c.6631G>C	XP_011531992.1:p.Asp2211His
XM_005265109.3:c.6559G>C	XP_005265166.1:p.Asp2187His
XM_005265110.3:c.6511G>C	XP_005265167.1:p.Asp2171His
XM_006713131.3:c.6562G>C	XP_006713194.1:p.Asp2188His
XM_011533682.3:c.6631G>C	XP_011531984.1:p.Asp2211His
XM_011533683.3:c.6628G>C	XP_011531985.1:p.Asp2210His
XM_011533684.2:c.6604G>C	XP_011531986.1:p.Asp2202His
XM_011533685.2:c.6598G>C	XP_011531987.1:p.Asp2200His
XM_011533686.2:c.6595G>C	XP_011531988.1:p.Asp2199His
XM_011533687.2:c.6586G>C	XP_011531989.1:p.Asp2196His
XM_011533688.2:c.6559G>C	XP_011531990.1:p.Asp2187His
XM_011533690.2:c.6631G>C	XP_011531992.1:p.Asp2211His
XM_017006357.2:c.6628G>C	XP_016861846.1:p.Asp2210His
NM_001099952.3:c.6484G>C	NP_001093422.2:p.Asp2162His
NM_002222.6:c.6439G>C	NP_002213.5:p.Asp2147His
NM_001099952.4:c.6484G>C	NP_001093422.2:p.Asp2162His
NM_001168272.2:c.6583G>C	NP_001161744.1:p.Asp2195His
NM_001378452.1:c.6628G>C MANE Select	NP_001365381.1:p.Asp2210His
NM_002222.7:c.6439G>C	NP_002213.5:p.Asp2147His