Canonical Allele Identifier: CA432318197

Gene: ITPR1

Linked Data

• dbSNP Id: rs1249681512
• gnomAD v2: 3-4821269-A-G
• gnomAD v4: 3-4779585-A-G
• MyVariant Identifiers: chr3:g.4821269A>G (hg19) ; chr3:g.4779585A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6338A>G	ENSP00000306253.9:n.6338A>G
ENST00000354582.12:c.6303A>G	ENSP00000346595.8:p.Glu2101=
ENST00000443694.5:c.6282A>G	ENSP00000401671.2:p.Glu2094=
ENST00000354582.11:c.6303A>G	ENSP00000346595.8:p.Glu2101=
ENST00000357086.10:c.6183A>G	ENSP00000349597.4:p.Glu2061=
ENST00000443694.4:c.6282A>G	ENSP00000401671.2:p.Glu2094=
ENST00000456211.8:c.6138A>G	ENSP00000397885.2:p.Glu2046=
ENST00000544951.6:c.997-26518A>G	ENSP00000440564.1:n.997-26518A>G
ENST00000647708.1:c.2226A>G
ENST00000647717.1:n.3831A>G
ENST00000648016.1:c.2662A>G
ENST00000648038.1:c.4089A>G	ENSP00000497872.1:p.Glu1363=
ENST00000648212.1:c.3235A>G
ENST00000648266.1:c.6300A>G	ENSP00000498014.1:p.Glu2100=
ENST00000648309.1:c.6255A>G	ENSP00000497026.1:p.Glu2085=
ENST00000648390.1:c.447-66554A>G
ENST00000648431.1:c.3629A>G
ENST00000648510.1:n.161A>G
ENST00000649015.2:c.6327A>G MANE Select	ENSP00000497605.1:p.Glu2109=
ENST00000649144.1:n.1375A>G
ENST00000649694.1:n.3812A>G
ENST00000650294.1:c.6285A>G	ENSP00000498056.1:p.Glu2095=
ENST00000302640.12:c.6282A>G	ENSP00000306253.8:p.Glu2094=
ENST00000354582.10:c.6327A>G	ENSP00000346595.7:p.Glu2109=
ENST00000357086.9:c.6183A>G	ENSP00000349597.4:p.Glu2061=
ENST00000443694.3:c.6282A>G	ENSP00000401671.2:p.Glu2094=
ENST00000456211.7:c.6138A>G	ENSP00000397885.2:p.Glu2046=
ENST00000544951.5:c.997-26518A>G	ENSP00000440564.1:n.997-26518A>G
NM_001099952.2:c.6183A>G	NP_001093422.2:p.Glu2061=
NM_001168272.1:c.6282A>G	NP_001161744.1:p.Glu2094=
NM_002222.5:c.6138A>G	NP_002213.5:p.Glu2046=
XM_005265109.2:c.6258A>G	XP_005265166.1:p.Glu2086=
XM_005265110.2:c.6210A>G	XP_005265167.1:p.Glu2070=
XM_006713131.2:c.6261A>G	XP_006713194.1:p.Glu2087=
XM_011533681.1:c.6330A>G	XP_011531983.1:p.Glu2110=
XM_011533682.1:c.6330A>G	XP_011531984.1:p.Glu2110=
XM_011533683.1:c.6327A>G	XP_011531985.1:p.Glu2109=
XM_011533684.1:c.6303A>G	XP_011531986.1:p.Glu2101=
XM_011533685.1:c.6297A>G	XP_011531987.1:p.Glu2099=
XM_011533686.1:c.6294A>G	XP_011531988.1:p.Glu2098=
XM_011533687.1:c.6285A>G	XP_011531989.1:p.Glu2095=
XM_011533688.1:c.6258A>G	XP_011531990.1:p.Glu2086=
XM_011533689.1:c.6219A>G	XP_011531991.1:p.Glu2073=
XM_011533690.1:c.6330A>G	XP_011531992.1:p.Glu2110=
XM_005265109.3:c.6258A>G	XP_005265166.1:p.Glu2086=
XM_005265110.3:c.6210A>G	XP_005265167.1:p.Glu2070=
XM_006713131.3:c.6261A>G	XP_006713194.1:p.Glu2087=
XM_011533682.3:c.6330A>G	XP_011531984.1:p.Glu2110=
XM_011533683.3:c.6327A>G	XP_011531985.1:p.Glu2109=
XM_011533684.2:c.6303A>G	XP_011531986.1:p.Glu2101=
XM_011533685.2:c.6297A>G	XP_011531987.1:p.Glu2099=
XM_011533686.2:c.6294A>G	XP_011531988.1:p.Glu2098=
XM_011533687.2:c.6285A>G	XP_011531989.1:p.Glu2095=
XM_011533688.2:c.6258A>G	XP_011531990.1:p.Glu2086=
XM_011533690.2:c.6330A>G	XP_011531992.1:p.Glu2110=
XM_017006357.2:c.6327A>G	XP_016861846.1:p.Glu2109=
NM_001099952.3:c.6183A>G	NP_001093422.2:p.Glu2061=
NM_002222.6:c.6138A>G	NP_002213.5:p.Glu2046=
NM_001099952.4:c.6183A>G	NP_001093422.2:p.Glu2061=
NM_001168272.2:c.6282A>G	NP_001161744.1:p.Glu2094=
NM_001378452.1:c.6327A>G MANE Select	NP_001365381.1:p.Glu2109=
NM_002222.7:c.6138A>G	NP_002213.5:p.Glu2046=