Canonical Allele Identifier: CA351640797

Gene: ITPR1

Linked Data

• dbSNP Id: rs1387979441
• gnomAD v3: 3-4788100-G-A
• gnomAD v4: 3-4788100-G-A
• MyVariant Identifiers: chr3:g.4829784G>A (hg19) ; chr3:g.4788100G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788100G>A , CM000665.2:g.4788100G>A	GRCh38
NC_000003.11:g.4829784G>A , CM000665.1:g.4829784G>A	GRCh37
NC_000003.10:g.4804784G>A	NCBI36
NG_016144.1:g.299753G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6780G>A	ENSP00000306253.9:n.6780G>A
ENST00000354582.12:c.6745G>A	ENSP00000346595.8:p.Asp2249Asn
ENST00000443694.5:c.6724G>A	ENSP00000401671.2:p.Asp2242Asn
ENST00000354582.11:c.6745G>A	ENSP00000346595.8:p.Asp2249Asn
ENST00000357086.10:c.6625G>A	ENSP00000349597.4:p.Asp2209Asn
ENST00000443694.4:c.6724G>A	ENSP00000401671.2:p.Asp2242Asn
ENST00000456211.8:c.6580G>A	ENSP00000397885.2:p.Asp2194Asn
ENST00000481415.2:n.661G>A
ENST00000544951.6:c.997-18003G>A	ENSP00000440564.1:n.997-18003G>A
ENST00000647708.1:c.2668G>A
ENST00000647717.1:n.4273G>A
ENST00000648016.1:c.3104G>A
ENST00000648038.1:c.4531G>A	ENSP00000497872.1:p.Asp1511Asn
ENST00000648212.1:c.3677G>A
ENST00000648266.1:c.6742G>A	ENSP00000498014.1:p.Asp2248Asn
ENST00000648309.1:c.6697G>A	ENSP00000497026.1:p.Asp2233Asn
ENST00000648390.1:c.447-58039G>A
ENST00000648431.1:c.4071G>A
ENST00000648510.1:n.603G>A
ENST00000649015.2:c.6769G>A MANE Select	ENSP00000497605.1:p.Asp2257Asn
ENST00000649144.1:n.1817G>A
ENST00000649272.1:n.331G>A
ENST00000649694.1:n.4254G>A
ENST00000650294.1:c.6727G>A	ENSP00000498056.1:p.Asp2243Asn
ENST00000302640.12:c.6724G>A	ENSP00000306253.8:p.Asp2242Asn
ENST00000354582.10:c.6769G>A	ENSP00000346595.7:p.Asp2257Asn
ENST00000357086.9:c.6625G>A	ENSP00000349597.4:p.Asp2209Asn
ENST00000443694.3:c.6724G>A	ENSP00000401671.2:p.Asp2242Asn
ENST00000456211.7:c.6580G>A	ENSP00000397885.2:p.Asp2194Asn
ENST00000544951.5:c.997-18003G>A	ENSP00000440564.1:n.997-18003G>A
NM_001099952.2:c.6625G>A	NP_001093422.2:p.Asp2209Asn
NM_001168272.1:c.6724G>A	NP_001161744.1:p.Asp2242Asn
NM_002222.5:c.6580G>A	NP_002213.5:p.Asp2194Asn
XM_005265109.2:c.6700G>A	XP_005265166.1:p.Asp2234Asn
XM_005265110.2:c.6652G>A	XP_005265167.1:p.Asp2218Asn
XM_006713131.2:c.6703G>A	XP_006713194.1:p.Asp2235Asn
XM_011533681.1:c.6772G>A	XP_011531983.1:p.Asp2258Asn
XM_011533682.1:c.6772G>A	XP_011531984.1:p.Asp2258Asn
XM_011533683.1:c.6769G>A	XP_011531985.1:p.Asp2257Asn
XM_011533684.1:c.6745G>A	XP_011531986.1:p.Asp2249Asn
XM_011533685.1:c.6739G>A	XP_011531987.1:p.Asp2247Asn
XM_011533686.1:c.6736G>A	XP_011531988.1:p.Asp2246Asn
XM_011533687.1:c.6727G>A	XP_011531989.1:p.Asp2243Asn
XM_011533688.1:c.6700G>A	XP_011531990.1:p.Asp2234Asn
XM_011533689.1:c.6661G>A	XP_011531991.1:p.Asp2221Asn
XM_011533690.1:c.6772G>A	XP_011531992.1:p.Asp2258Asn
XM_005265109.3:c.6700G>A	XP_005265166.1:p.Asp2234Asn
XM_005265110.3:c.6652G>A	XP_005265167.1:p.Asp2218Asn
XM_006713131.3:c.6703G>A	XP_006713194.1:p.Asp2235Asn
XM_011533682.3:c.6772G>A	XP_011531984.1:p.Asp2258Asn
XM_011533683.3:c.6769G>A	XP_011531985.1:p.Asp2257Asn
XM_011533684.2:c.6745G>A	XP_011531986.1:p.Asp2249Asn
XM_011533685.2:c.6739G>A	XP_011531987.1:p.Asp2247Asn
XM_011533686.2:c.6736G>A	XP_011531988.1:p.Asp2246Asn
XM_011533687.2:c.6727G>A	XP_011531989.1:p.Asp2243Asn
XM_011533688.2:c.6700G>A	XP_011531990.1:p.Asp2234Asn
XM_011533690.2:c.6772G>A	XP_011531992.1:p.Asp2258Asn
XM_017006357.2:c.6769G>A	XP_016861846.1:p.Asp2257Asn
NM_001099952.3:c.6625G>A	NP_001093422.2:p.Asp2209Asn
NM_002222.6:c.6580G>A	NP_002213.5:p.Asp2194Asn
NM_001099952.4:c.6625G>A	NP_001093422.2:p.Asp2209Asn
NM_001168272.2:c.6724G>A	NP_001161744.1:p.Asp2242Asn
NM_001378452.1:c.6769G>A MANE Select	NP_001365381.1:p.Asp2257Asn
NM_002222.7:c.6580G>A	NP_002213.5:p.Asp2194Asn