Canonical Allele Identifier: CA351640823

Gene: ITPR1

Linked Data

• dbSNP Id: rs1331712261
• gnomAD v2: 3-4829790-T-C
• gnomAD v4: 3-4788106-T-C
• MyVariant Identifiers: chr3:g.4829790T>C (hg19) ; chr3:g.4788106T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788106T>C , CM000665.2:g.4788106T>C	GRCh38
NC_000003.11:g.4829790T>C , CM000665.1:g.4829790T>C	GRCh37
NC_000003.10:g.4804790T>C	NCBI36
NG_016144.1:g.299759T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6786T>C	ENSP00000306253.9:n.6786T>C
ENST00000354582.12:c.6751T>C	ENSP00000346595.8:p.Phe2251Leu
ENST00000443694.5:c.6730T>C	ENSP00000401671.2:p.Phe2244Leu
ENST00000354582.11:c.6751T>C	ENSP00000346595.8:p.Phe2251Leu
ENST00000357086.10:c.6631T>C	ENSP00000349597.4:p.Phe2211Leu
ENST00000443694.4:c.6730T>C	ENSP00000401671.2:p.Phe2244Leu
ENST00000456211.8:c.6586T>C	ENSP00000397885.2:p.Phe2196Leu
ENST00000481415.2:n.667T>C
ENST00000544951.6:c.997-17997T>C	ENSP00000440564.1:n.997-17997T>C
ENST00000647708.1:c.2674T>C
ENST00000647717.1:n.4279T>C
ENST00000648016.1:c.3110T>C
ENST00000648038.1:c.4537T>C	ENSP00000497872.1:p.Phe1513Leu
ENST00000648212.1:c.3683T>C
ENST00000648266.1:c.6748T>C	ENSP00000498014.1:p.Phe2250Leu
ENST00000648309.1:c.6703T>C	ENSP00000497026.1:p.Phe2235Leu
ENST00000648390.1:c.447-58033T>C
ENST00000648431.1:c.4077T>C
ENST00000648510.1:n.609T>C
ENST00000649015.2:c.6775T>C MANE Select	ENSP00000497605.1:p.Phe2259Leu
ENST00000649144.1:n.1823T>C
ENST00000649272.1:n.337T>C
ENST00000649694.1:n.4260T>C
ENST00000650294.1:c.6733T>C	ENSP00000498056.1:p.Phe2245Leu
ENST00000302640.12:c.6730T>C	ENSP00000306253.8:p.Phe2244Leu
ENST00000354582.10:c.6775T>C	ENSP00000346595.7:p.Phe2259Leu
ENST00000357086.9:c.6631T>C	ENSP00000349597.4:p.Phe2211Leu
ENST00000443694.3:c.6730T>C	ENSP00000401671.2:p.Phe2244Leu
ENST00000456211.7:c.6586T>C	ENSP00000397885.2:p.Phe2196Leu
ENST00000544951.5:c.997-17997T>C	ENSP00000440564.1:n.997-17997T>C
NM_001099952.2:c.6631T>C	NP_001093422.2:p.Phe2211Leu
NM_001168272.1:c.6730T>C	NP_001161744.1:p.Phe2244Leu
NM_002222.5:c.6586T>C	NP_002213.5:p.Phe2196Leu
XM_005265109.2:c.6706T>C	XP_005265166.1:p.Phe2236Leu
XM_005265110.2:c.6658T>C	XP_005265167.1:p.Phe2220Leu
XM_006713131.2:c.6709T>C	XP_006713194.1:p.Phe2237Leu
XM_011533681.1:c.6778T>C	XP_011531983.1:p.Phe2260Leu
XM_011533682.1:c.6778T>C	XP_011531984.1:p.Phe2260Leu
XM_011533683.1:c.6775T>C	XP_011531985.1:p.Phe2259Leu
XM_011533684.1:c.6751T>C	XP_011531986.1:p.Phe2251Leu
XM_011533685.1:c.6745T>C	XP_011531987.1:p.Phe2249Leu
XM_011533686.1:c.6742T>C	XP_011531988.1:p.Phe2248Leu
XM_011533687.1:c.6733T>C	XP_011531989.1:p.Phe2245Leu
XM_011533688.1:c.6706T>C	XP_011531990.1:p.Phe2236Leu
XM_011533689.1:c.6667T>C	XP_011531991.1:p.Phe2223Leu
XM_011533690.1:c.6778T>C	XP_011531992.1:p.Phe2260Leu
XM_005265109.3:c.6706T>C	XP_005265166.1:p.Phe2236Leu
XM_005265110.3:c.6658T>C	XP_005265167.1:p.Phe2220Leu
XM_006713131.3:c.6709T>C	XP_006713194.1:p.Phe2237Leu
XM_011533682.3:c.6778T>C	XP_011531984.1:p.Phe2260Leu
XM_011533683.3:c.6775T>C	XP_011531985.1:p.Phe2259Leu
XM_011533684.2:c.6751T>C	XP_011531986.1:p.Phe2251Leu
XM_011533685.2:c.6745T>C	XP_011531987.1:p.Phe2249Leu
XM_011533686.2:c.6742T>C	XP_011531988.1:p.Phe2248Leu
XM_011533687.2:c.6733T>C	XP_011531989.1:p.Phe2245Leu
XM_011533688.2:c.6706T>C	XP_011531990.1:p.Phe2236Leu
XM_011533690.2:c.6778T>C	XP_011531992.1:p.Phe2260Leu
XM_017006357.2:c.6775T>C	XP_016861846.1:p.Phe2259Leu
NM_001099952.3:c.6631T>C	NP_001093422.2:p.Phe2211Leu
NM_002222.6:c.6586T>C	NP_002213.5:p.Phe2196Leu
NM_001099952.4:c.6631T>C	NP_001093422.2:p.Phe2211Leu
NM_001168272.2:c.6730T>C	NP_001161744.1:p.Phe2244Leu
NM_001378452.1:c.6775T>C MANE Select	NP_001365381.1:p.Phe2259Leu
NM_002222.7:c.6586T>C	NP_002213.5:p.Phe2196Leu