Canonical Allele Identifier: CA351640650

Gene: ITPR1

Linked Data

• gnomAD v4: 3-4788050-A-T
• MyVariant Identifiers: chr3:g.4829734A>T (hg19) ; chr3:g.4788050A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788050A>T , CM000665.2:g.4788050A>T	GRCh38
NC_000003.11:g.4829734A>T , CM000665.1:g.4829734A>T	GRCh37
NC_000003.10:g.4804734A>T	NCBI36
NG_016144.1:g.299703A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6730A>T	ENSP00000306253.9:n.6730A>T
ENST00000354582.12:c.6695A>T	ENSP00000346595.8:p.Glu2232Val
ENST00000443694.5:c.6674A>T	ENSP00000401671.2:p.Glu2225Val
ENST00000354582.11:c.6695A>T	ENSP00000346595.8:p.Glu2232Val
ENST00000357086.10:c.6575A>T	ENSP00000349597.4:p.Glu2192Val
ENST00000443694.4:c.6674A>T	ENSP00000401671.2:p.Glu2225Val
ENST00000456211.8:c.6530A>T	ENSP00000397885.2:p.Glu2177Val
ENST00000481415.2:n.611A>T
ENST00000544951.6:c.997-18053A>T	ENSP00000440564.1:n.997-18053A>T
ENST00000647708.1:c.2618A>T
ENST00000647717.1:n.4223A>T
ENST00000648016.1:c.3054A>T
ENST00000648038.1:c.4481A>T	ENSP00000497872.1:p.Glu1494Val
ENST00000648212.1:c.3627A>T
ENST00000648266.1:c.6692A>T	ENSP00000498014.1:p.Glu2231Val
ENST00000648309.1:c.6647A>T	ENSP00000497026.1:p.Glu2216Val
ENST00000648390.1:c.447-58089A>T
ENST00000648431.1:c.4021A>T
ENST00000648510.1:n.553A>T
ENST00000649015.2:c.6719A>T MANE Select	ENSP00000497605.1:p.Glu2240Val
ENST00000649144.1:n.1767A>T
ENST00000649272.1:n.281A>T
ENST00000649694.1:n.4204A>T
ENST00000650294.1:c.6677A>T	ENSP00000498056.1:p.Glu2226Val
ENST00000302640.12:c.6674A>T	ENSP00000306253.8:p.Glu2225Val
ENST00000354582.10:c.6719A>T	ENSP00000346595.7:p.Glu2240Val
ENST00000357086.9:c.6575A>T	ENSP00000349597.4:p.Glu2192Val
ENST00000443694.3:c.6674A>T	ENSP00000401671.2:p.Glu2225Val
ENST00000456211.7:c.6530A>T	ENSP00000397885.2:p.Glu2177Val
ENST00000544951.5:c.997-18053A>T	ENSP00000440564.1:n.997-18053A>T
NM_001099952.2:c.6575A>T	NP_001093422.2:p.Glu2192Val
NM_001168272.1:c.6674A>T	NP_001161744.1:p.Glu2225Val
NM_002222.5:c.6530A>T	NP_002213.5:p.Glu2177Val
XM_005265109.2:c.6650A>T	XP_005265166.1:p.Glu2217Val
XM_005265110.2:c.6602A>T	XP_005265167.1:p.Glu2201Val
XM_006713131.2:c.6653A>T	XP_006713194.1:p.Glu2218Val
XM_011533681.1:c.6722A>T	XP_011531983.1:p.Glu2241Val
XM_011533682.1:c.6722A>T	XP_011531984.1:p.Glu2241Val
XM_011533683.1:c.6719A>T	XP_011531985.1:p.Glu2240Val
XM_011533684.1:c.6695A>T	XP_011531986.1:p.Glu2232Val
XM_011533685.1:c.6689A>T	XP_011531987.1:p.Glu2230Val
XM_011533686.1:c.6686A>T	XP_011531988.1:p.Glu2229Val
XM_011533687.1:c.6677A>T	XP_011531989.1:p.Glu2226Val
XM_011533688.1:c.6650A>T	XP_011531990.1:p.Glu2217Val
XM_011533689.1:c.6611A>T	XP_011531991.1:p.Glu2204Val
XM_011533690.1:c.6722A>T	XP_011531992.1:p.Glu2241Val
XM_005265109.3:c.6650A>T	XP_005265166.1:p.Glu2217Val
XM_005265110.3:c.6602A>T	XP_005265167.1:p.Glu2201Val
XM_006713131.3:c.6653A>T	XP_006713194.1:p.Glu2218Val
XM_011533682.3:c.6722A>T	XP_011531984.1:p.Glu2241Val
XM_011533683.3:c.6719A>T	XP_011531985.1:p.Glu2240Val
XM_011533684.2:c.6695A>T	XP_011531986.1:p.Glu2232Val
XM_011533685.2:c.6689A>T	XP_011531987.1:p.Glu2230Val
XM_011533686.2:c.6686A>T	XP_011531988.1:p.Glu2229Val
XM_011533687.2:c.6677A>T	XP_011531989.1:p.Glu2226Val
XM_011533688.2:c.6650A>T	XP_011531990.1:p.Glu2217Val
XM_011533690.2:c.6722A>T	XP_011531992.1:p.Glu2241Val
XM_017006357.2:c.6719A>T	XP_016861846.1:p.Glu2240Val
NM_001099952.3:c.6575A>T	NP_001093422.2:p.Glu2192Val
NM_002222.6:c.6530A>T	NP_002213.5:p.Glu2177Val
NM_001099952.4:c.6575A>T	NP_001093422.2:p.Glu2192Val
NM_001168272.2:c.6674A>T	NP_001161744.1:p.Glu2225Val
NM_001378452.1:c.6719A>T MANE Select	NP_001365381.1:p.Glu2240Val
NM_002222.7:c.6530A>T	NP_002213.5:p.Glu2177Val