Canonical Allele Identifier: CA351640672

Gene: ITPR1

Linked Data

• MyVariant Identifiers: chr3:g.4829743A>T (hg19) ; chr3:g.4788059A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788059A>T , CM000665.2:g.4788059A>T	GRCh38
NC_000003.11:g.4829743A>T , CM000665.1:g.4829743A>T	GRCh37
NC_000003.10:g.4804743A>T	NCBI36
NG_016144.1:g.299712A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6739A>T	ENSP00000306253.9:n.6739A>T
ENST00000354582.12:c.6704A>T	ENSP00000346595.8:p.Glu2235Val
ENST00000443694.5:c.6683A>T	ENSP00000401671.2:p.Glu2228Val
ENST00000354582.11:c.6704A>T	ENSP00000346595.8:p.Glu2235Val
ENST00000357086.10:c.6584A>T	ENSP00000349597.4:p.Glu2195Val
ENST00000443694.4:c.6683A>T	ENSP00000401671.2:p.Glu2228Val
ENST00000456211.8:c.6539A>T	ENSP00000397885.2:p.Glu2180Val
ENST00000481415.2:n.620A>T
ENST00000544951.6:c.997-18044A>T	ENSP00000440564.1:n.997-18044A>T
ENST00000647708.1:c.2627A>T
ENST00000647717.1:n.4232A>T
ENST00000648016.1:c.3063A>T
ENST00000648038.1:c.4490A>T	ENSP00000497872.1:p.Glu1497Val
ENST00000648212.1:c.3636A>T
ENST00000648266.1:c.6701A>T	ENSP00000498014.1:p.Glu2234Val
ENST00000648309.1:c.6656A>T	ENSP00000497026.1:p.Glu2219Val
ENST00000648390.1:c.447-58080A>T
ENST00000648431.1:c.4030A>T
ENST00000648510.1:n.562A>T
ENST00000649015.2:c.6728A>T MANE Select	ENSP00000497605.1:p.Glu2243Val
ENST00000649144.1:n.1776A>T
ENST00000649272.1:n.290A>T
ENST00000649694.1:n.4213A>T
ENST00000650294.1:c.6686A>T	ENSP00000498056.1:p.Glu2229Val
ENST00000302640.12:c.6683A>T	ENSP00000306253.8:p.Glu2228Val
ENST00000354582.10:c.6728A>T	ENSP00000346595.7:p.Glu2243Val
ENST00000357086.9:c.6584A>T	ENSP00000349597.4:p.Glu2195Val
ENST00000443694.3:c.6683A>T	ENSP00000401671.2:p.Glu2228Val
ENST00000456211.7:c.6539A>T	ENSP00000397885.2:p.Glu2180Val
ENST00000544951.5:c.997-18044A>T	ENSP00000440564.1:n.997-18044A>T
NM_001099952.2:c.6584A>T	NP_001093422.2:p.Glu2195Val
NM_001168272.1:c.6683A>T	NP_001161744.1:p.Glu2228Val
NM_002222.5:c.6539A>T	NP_002213.5:p.Glu2180Val
XM_005265109.2:c.6659A>T	XP_005265166.1:p.Glu2220Val
XM_005265110.2:c.6611A>T	XP_005265167.1:p.Glu2204Val
XM_006713131.2:c.6662A>T	XP_006713194.1:p.Glu2221Val
XM_011533681.1:c.6731A>T	XP_011531983.1:p.Glu2244Val
XM_011533682.1:c.6731A>T	XP_011531984.1:p.Glu2244Val
XM_011533683.1:c.6728A>T	XP_011531985.1:p.Glu2243Val
XM_011533684.1:c.6704A>T	XP_011531986.1:p.Glu2235Val
XM_011533685.1:c.6698A>T	XP_011531987.1:p.Glu2233Val
XM_011533686.1:c.6695A>T	XP_011531988.1:p.Glu2232Val
XM_011533687.1:c.6686A>T	XP_011531989.1:p.Glu2229Val
XM_011533688.1:c.6659A>T	XP_011531990.1:p.Glu2220Val
XM_011533689.1:c.6620A>T	XP_011531991.1:p.Glu2207Val
XM_011533690.1:c.6731A>T	XP_011531992.1:p.Glu2244Val
XM_005265109.3:c.6659A>T	XP_005265166.1:p.Glu2220Val
XM_005265110.3:c.6611A>T	XP_005265167.1:p.Glu2204Val
XM_006713131.3:c.6662A>T	XP_006713194.1:p.Glu2221Val
XM_011533682.3:c.6731A>T	XP_011531984.1:p.Glu2244Val
XM_011533683.3:c.6728A>T	XP_011531985.1:p.Glu2243Val
XM_011533684.2:c.6704A>T	XP_011531986.1:p.Glu2235Val
XM_011533685.2:c.6698A>T	XP_011531987.1:p.Glu2233Val
XM_011533686.2:c.6695A>T	XP_011531988.1:p.Glu2232Val
XM_011533687.2:c.6686A>T	XP_011531989.1:p.Glu2229Val
XM_011533688.2:c.6659A>T	XP_011531990.1:p.Glu2220Val
XM_011533690.2:c.6731A>T	XP_011531992.1:p.Glu2244Val
XM_017006357.2:c.6728A>T	XP_016861846.1:p.Glu2243Val
NM_001099952.3:c.6584A>T	NP_001093422.2:p.Glu2195Val
NM_002222.6:c.6539A>T	NP_002213.5:p.Glu2180Val
NM_001099952.4:c.6584A>T	NP_001093422.2:p.Glu2195Val
NM_001168272.2:c.6683A>T	NP_001161744.1:p.Glu2228Val
NM_001378452.1:c.6728A>T MANE Select	NP_001365381.1:p.Glu2243Val
NM_002222.7:c.6539A>T	NP_002213.5:p.Glu2180Val