Canonical Allele Identifier: CA351638305

Gene: ITPR1

Linked Data

• MyVariant Identifiers: chr3:g.4821269A>C (hg19) ; chr3:g.4779585A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4779585A>C , CM000665.2:g.4779585A>C	GRCh38
NC_000003.11:g.4821269A>C , CM000665.1:g.4821269A>C	GRCh37
NC_000003.10:g.4796269A>C	NCBI36
NG_016144.1:g.291238A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6338A>C	ENSP00000306253.9:n.6338A>C
ENST00000354582.12:c.6303A>C	ENSP00000346595.8:p.Glu2101Asp
ENST00000443694.5:c.6282A>C	ENSP00000401671.2:p.Glu2094Asp
ENST00000354582.11:c.6303A>C	ENSP00000346595.8:p.Glu2101Asp
ENST00000357086.10:c.6183A>C	ENSP00000349597.4:p.Glu2061Asp
ENST00000443694.4:c.6282A>C	ENSP00000401671.2:p.Glu2094Asp
ENST00000456211.8:c.6138A>C	ENSP00000397885.2:p.Glu2046Asp
ENST00000544951.6:c.997-26518A>C	ENSP00000440564.1:n.997-26518A>C
ENST00000647708.1:c.2226A>C
ENST00000647717.1:n.3831A>C
ENST00000648016.1:c.2662A>C
ENST00000648038.1:c.4089A>C	ENSP00000497872.1:p.Glu1363Asp
ENST00000648212.1:c.3235A>C
ENST00000648266.1:c.6300A>C	ENSP00000498014.1:p.Glu2100Asp
ENST00000648309.1:c.6255A>C	ENSP00000497026.1:p.Glu2085Asp
ENST00000648390.1:c.447-66554A>C
ENST00000648431.1:c.3629A>C
ENST00000648510.1:n.161A>C
ENST00000649015.2:c.6327A>C MANE Select	ENSP00000497605.1:p.Glu2109Asp
ENST00000649144.1:n.1375A>C
ENST00000649694.1:n.3812A>C
ENST00000650294.1:c.6285A>C	ENSP00000498056.1:p.Glu2095Asp
ENST00000302640.12:c.6282A>C	ENSP00000306253.8:p.Glu2094Asp
ENST00000354582.10:c.6327A>C	ENSP00000346595.7:p.Glu2109Asp
ENST00000357086.9:c.6183A>C	ENSP00000349597.4:p.Glu2061Asp
ENST00000443694.3:c.6282A>C	ENSP00000401671.2:p.Glu2094Asp
ENST00000456211.7:c.6138A>C	ENSP00000397885.2:p.Glu2046Asp
ENST00000544951.5:c.997-26518A>C	ENSP00000440564.1:n.997-26518A>C
NM_001099952.2:c.6183A>C	NP_001093422.2:p.Glu2061Asp
NM_001168272.1:c.6282A>C	NP_001161744.1:p.Glu2094Asp
NM_002222.5:c.6138A>C	NP_002213.5:p.Glu2046Asp
XM_005265109.2:c.6258A>C	XP_005265166.1:p.Glu2086Asp
XM_005265110.2:c.6210A>C	XP_005265167.1:p.Glu2070Asp
XM_006713131.2:c.6261A>C	XP_006713194.1:p.Glu2087Asp
XM_011533681.1:c.6330A>C	XP_011531983.1:p.Glu2110Asp
XM_011533682.1:c.6330A>C	XP_011531984.1:p.Glu2110Asp
XM_011533683.1:c.6327A>C	XP_011531985.1:p.Glu2109Asp
XM_011533684.1:c.6303A>C	XP_011531986.1:p.Glu2101Asp
XM_011533685.1:c.6297A>C	XP_011531987.1:p.Glu2099Asp
XM_011533686.1:c.6294A>C	XP_011531988.1:p.Glu2098Asp
XM_011533687.1:c.6285A>C	XP_011531989.1:p.Glu2095Asp
XM_011533688.1:c.6258A>C	XP_011531990.1:p.Glu2086Asp
XM_011533689.1:c.6219A>C	XP_011531991.1:p.Glu2073Asp
XM_011533690.1:c.6330A>C	XP_011531992.1:p.Glu2110Asp
XM_005265109.3:c.6258A>C	XP_005265166.1:p.Glu2086Asp
XM_005265110.3:c.6210A>C	XP_005265167.1:p.Glu2070Asp
XM_006713131.3:c.6261A>C	XP_006713194.1:p.Glu2087Asp
XM_011533682.3:c.6330A>C	XP_011531984.1:p.Glu2110Asp
XM_011533683.3:c.6327A>C	XP_011531985.1:p.Glu2109Asp
XM_011533684.2:c.6303A>C	XP_011531986.1:p.Glu2101Asp
XM_011533685.2:c.6297A>C	XP_011531987.1:p.Glu2099Asp
XM_011533686.2:c.6294A>C	XP_011531988.1:p.Glu2098Asp
XM_011533687.2:c.6285A>C	XP_011531989.1:p.Glu2095Asp
XM_011533688.2:c.6258A>C	XP_011531990.1:p.Glu2086Asp
XM_011533690.2:c.6330A>C	XP_011531992.1:p.Glu2110Asp
XM_017006357.2:c.6327A>C	XP_016861846.1:p.Glu2109Asp
NM_001099952.3:c.6183A>C	NP_001093422.2:p.Glu2061Asp
NM_002222.6:c.6138A>C	NP_002213.5:p.Glu2046Asp
NM_001099952.4:c.6183A>C	NP_001093422.2:p.Glu2061Asp
NM_001168272.2:c.6282A>C	NP_001161744.1:p.Glu2094Asp
NM_001378452.1:c.6327A>C MANE Select	NP_001365381.1:p.Glu2109Asp
NM_002222.7:c.6138A>C	NP_002213.5:p.Glu2046Asp