Canonical Allele Identifier: CA351640669

Gene: ITPR1

Linked Data

• gnomAD v4: 3-4788058-G-T
• MyVariant Identifiers: chr3:g.4829742G>T (hg19) ; chr3:g.4788058G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788058G>T , CM000665.2:g.4788058G>T	GRCh38
NC_000003.11:g.4829742G>T , CM000665.1:g.4829742G>T	GRCh37
NC_000003.10:g.4804742G>T	NCBI36
NG_016144.1:g.299711G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6738G>T	ENSP00000306253.9:n.6738G>T
ENST00000354582.12:c.6703G>T	ENSP00000346595.8:p.Glu2235Ter
ENST00000443694.5:c.6682G>T	ENSP00000401671.2:p.Glu2228Ter
ENST00000354582.11:c.6703G>T	ENSP00000346595.8:p.Glu2235Ter
ENST00000357086.10:c.6583G>T	ENSP00000349597.4:p.Glu2195Ter
ENST00000443694.4:c.6682G>T	ENSP00000401671.2:p.Glu2228Ter
ENST00000456211.8:c.6538G>T	ENSP00000397885.2:p.Glu2180Ter
ENST00000481415.2:n.619G>T
ENST00000544951.6:c.997-18045G>T	ENSP00000440564.1:n.997-18045G>T
ENST00000647708.1:c.2626G>T
ENST00000647717.1:n.4231G>T
ENST00000648016.1:c.3062G>T
ENST00000648038.1:c.4489G>T	ENSP00000497872.1:p.Glu1497Ter
ENST00000648212.1:c.3635G>T
ENST00000648266.1:c.6700G>T	ENSP00000498014.1:p.Glu2234Ter
ENST00000648309.1:c.6655G>T	ENSP00000497026.1:p.Glu2219Ter
ENST00000648390.1:c.447-58081G>T
ENST00000648431.1:c.4029G>T
ENST00000648510.1:n.561G>T
ENST00000649015.2:c.6727G>T MANE Select	ENSP00000497605.1:p.Glu2243Ter
ENST00000649144.1:n.1775G>T
ENST00000649272.1:n.289G>T
ENST00000649694.1:n.4212G>T
ENST00000650294.1:c.6685G>T	ENSP00000498056.1:p.Glu2229Ter
ENST00000302640.12:c.6682G>T	ENSP00000306253.8:p.Glu2228Ter
ENST00000354582.10:c.6727G>T	ENSP00000346595.7:p.Glu2243Ter
ENST00000357086.9:c.6583G>T	ENSP00000349597.4:p.Glu2195Ter
ENST00000443694.3:c.6682G>T	ENSP00000401671.2:p.Glu2228Ter
ENST00000456211.7:c.6538G>T	ENSP00000397885.2:p.Glu2180Ter
ENST00000544951.5:c.997-18045G>T	ENSP00000440564.1:n.997-18045G>T
NM_001099952.2:c.6583G>T	NP_001093422.2:p.Glu2195Ter
NM_001168272.1:c.6682G>T	NP_001161744.1:p.Glu2228Ter
NM_002222.5:c.6538G>T	NP_002213.5:p.Glu2180Ter
XM_005265109.2:c.6658G>T	XP_005265166.1:p.Glu2220Ter
XM_005265110.2:c.6610G>T	XP_005265167.1:p.Glu2204Ter
XM_006713131.2:c.6661G>T	XP_006713194.1:p.Glu2221Ter
XM_011533681.1:c.6730G>T	XP_011531983.1:p.Glu2244Ter
XM_011533682.1:c.6730G>T	XP_011531984.1:p.Glu2244Ter
XM_011533683.1:c.6727G>T	XP_011531985.1:p.Glu2243Ter
XM_011533684.1:c.6703G>T	XP_011531986.1:p.Glu2235Ter
XM_011533685.1:c.6697G>T	XP_011531987.1:p.Glu2233Ter
XM_011533686.1:c.6694G>T	XP_011531988.1:p.Glu2232Ter
XM_011533687.1:c.6685G>T	XP_011531989.1:p.Glu2229Ter
XM_011533688.1:c.6658G>T	XP_011531990.1:p.Glu2220Ter
XM_011533689.1:c.6619G>T	XP_011531991.1:p.Glu2207Ter
XM_011533690.1:c.6730G>T	XP_011531992.1:p.Glu2244Ter
XM_005265109.3:c.6658G>T	XP_005265166.1:p.Glu2220Ter
XM_005265110.3:c.6610G>T	XP_005265167.1:p.Glu2204Ter
XM_006713131.3:c.6661G>T	XP_006713194.1:p.Glu2221Ter
XM_011533682.3:c.6730G>T	XP_011531984.1:p.Glu2244Ter
XM_011533683.3:c.6727G>T	XP_011531985.1:p.Glu2243Ter
XM_011533684.2:c.6703G>T	XP_011531986.1:p.Glu2235Ter
XM_011533685.2:c.6697G>T	XP_011531987.1:p.Glu2233Ter
XM_011533686.2:c.6694G>T	XP_011531988.1:p.Glu2232Ter
XM_011533687.2:c.6685G>T	XP_011531989.1:p.Glu2229Ter
XM_011533688.2:c.6658G>T	XP_011531990.1:p.Glu2220Ter
XM_011533690.2:c.6730G>T	XP_011531992.1:p.Glu2244Ter
XM_017006357.2:c.6727G>T	XP_016861846.1:p.Glu2243Ter
NM_001099952.3:c.6583G>T	NP_001093422.2:p.Glu2195Ter
NM_002222.6:c.6538G>T	NP_002213.5:p.Glu2180Ter
NM_001099952.4:c.6583G>T	NP_001093422.2:p.Glu2195Ter
NM_001168272.2:c.6682G>T	NP_001161744.1:p.Glu2228Ter
NM_001378452.1:c.6727G>T MANE Select	NP_001365381.1:p.Glu2243Ter
NM_002222.7:c.6538G>T	NP_002213.5:p.Glu2180Ter