Canonical Allele Identifier: CA351640421

Gene: ITPR1

Linked Data

• gnomAD v4: 3-4787947-A-G
• MyVariant Identifiers: chr3:g.4829631A>G (hg19) ; chr3:g.4787947A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4787947A>G , CM000665.2:g.4787947A>G	GRCh38
NC_000003.11:g.4829631A>G , CM000665.1:g.4829631A>G	GRCh37
NC_000003.10:g.4804631A>G	NCBI36
NG_016144.1:g.299600A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6627A>G	ENSP00000306253.9:n.6627A>G
ENST00000354582.12:c.6592A>G	ENSP00000346595.8:p.Ile2198Val
ENST00000443694.5:c.6571A>G	ENSP00000401671.2:p.Ile2191Val
ENST00000354582.11:c.6592A>G	ENSP00000346595.8:p.Ile2198Val
ENST00000357086.10:c.6472A>G	ENSP00000349597.4:p.Ile2158Val
ENST00000443694.4:c.6571A>G	ENSP00000401671.2:p.Ile2191Val
ENST00000456211.8:c.6427A>G	ENSP00000397885.2:p.Ile2143Val
ENST00000481415.2:n.508A>G
ENST00000544951.6:c.997-18156A>G	ENSP00000440564.1:n.997-18156A>G
ENST00000647708.1:c.2515A>G
ENST00000647717.1:n.4120A>G
ENST00000648016.1:c.2951A>G
ENST00000648038.1:c.4378A>G	ENSP00000497872.1:p.Ile1460Val
ENST00000648212.1:c.3524A>G
ENST00000648266.1:c.6589A>G	ENSP00000498014.1:p.Ile2197Val
ENST00000648309.1:c.6544A>G	ENSP00000497026.1:p.Ile2182Val
ENST00000648390.1:c.447-58192A>G
ENST00000648431.1:c.3918A>G
ENST00000648510.1:n.450A>G
ENST00000649015.2:c.6616A>G MANE Select	ENSP00000497605.1:p.Ile2206Val
ENST00000649144.1:n.1664A>G
ENST00000649272.1:n.178A>G
ENST00000649694.1:n.4101A>G
ENST00000650294.1:c.6574A>G	ENSP00000498056.1:p.Ile2192Val
ENST00000302640.12:c.6571A>G	ENSP00000306253.8:p.Ile2191Val
ENST00000354582.10:c.6616A>G	ENSP00000346595.7:p.Ile2206Val
ENST00000357086.9:c.6472A>G	ENSP00000349597.4:p.Ile2158Val
ENST00000443694.3:c.6571A>G	ENSP00000401671.2:p.Ile2191Val
ENST00000456211.7:c.6427A>G	ENSP00000397885.2:p.Ile2143Val
ENST00000481415.1:n.508A>G
ENST00000544951.5:c.997-18156A>G	ENSP00000440564.1:n.997-18156A>G
NM_001099952.2:c.6472A>G	NP_001093422.2:p.Ile2158Val
NM_001168272.1:c.6571A>G	NP_001161744.1:p.Ile2191Val
NM_002222.5:c.6427A>G	NP_002213.5:p.Ile2143Val
XM_005265109.2:c.6547A>G	XP_005265166.1:p.Ile2183Val
XM_005265110.2:c.6499A>G	XP_005265167.1:p.Ile2167Val
XM_006713131.2:c.6550A>G	XP_006713194.1:p.Ile2184Val
XM_011533681.1:c.6619A>G	XP_011531983.1:p.Ile2207Val
XM_011533682.1:c.6619A>G	XP_011531984.1:p.Ile2207Val
XM_011533683.1:c.6616A>G	XP_011531985.1:p.Ile2206Val
XM_011533684.1:c.6592A>G	XP_011531986.1:p.Ile2198Val
XM_011533685.1:c.6586A>G	XP_011531987.1:p.Ile2196Val
XM_011533686.1:c.6583A>G	XP_011531988.1:p.Ile2195Val
XM_011533687.1:c.6574A>G	XP_011531989.1:p.Ile2192Val
XM_011533688.1:c.6547A>G	XP_011531990.1:p.Ile2183Val
XM_011533689.1:c.6508A>G	XP_011531991.1:p.Ile2170Val
XM_011533690.1:c.6619A>G	XP_011531992.1:p.Ile2207Val
XM_005265109.3:c.6547A>G	XP_005265166.1:p.Ile2183Val
XM_005265110.3:c.6499A>G	XP_005265167.1:p.Ile2167Val
XM_006713131.3:c.6550A>G	XP_006713194.1:p.Ile2184Val
XM_011533682.3:c.6619A>G	XP_011531984.1:p.Ile2207Val
XM_011533683.3:c.6616A>G	XP_011531985.1:p.Ile2206Val
XM_011533684.2:c.6592A>G	XP_011531986.1:p.Ile2198Val
XM_011533685.2:c.6586A>G	XP_011531987.1:p.Ile2196Val
XM_011533686.2:c.6583A>G	XP_011531988.1:p.Ile2195Val
XM_011533687.2:c.6574A>G	XP_011531989.1:p.Ile2192Val
XM_011533688.2:c.6547A>G	XP_011531990.1:p.Ile2183Val
XM_011533690.2:c.6619A>G	XP_011531992.1:p.Ile2207Val
XM_017006357.2:c.6616A>G	XP_016861846.1:p.Ile2206Val
NM_001099952.3:c.6472A>G	NP_001093422.2:p.Ile2158Val
NM_002222.6:c.6427A>G	NP_002213.5:p.Ile2143Val
NM_001099952.4:c.6472A>G	NP_001093422.2:p.Ile2158Val
NM_001168272.2:c.6571A>G	NP_001161744.1:p.Ile2191Val
NM_001378452.1:c.6616A>G MANE Select	NP_001365381.1:p.Ile2206Val
NM_002222.7:c.6427A>G	NP_002213.5:p.Ile2143Val