Canonical Allele Identifier: CA2232664

Gene: ITPR1

Linked Data

• dbSNP Id: rs770373266
• ExAC: 3:4829787 C / T
• gnomAD v2: 3-4829787-C-T
• gnomAD v3: 3-4788103-C-T
• gnomAD v4: 3-4788103-C-T
• MyVariant Identifiers: chr3:g.4829787C>T (hg19) ; chr3:g.4788103C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788103C>T , CM000665.2:g.4788103C>T	GRCh38
NC_000003.11:g.4829787C>T , CM000665.1:g.4829787C>T	GRCh37
NC_000003.10:g.4804787C>T	NCBI36
NG_016144.1:g.299756C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6783C>T	ENSP00000306253.9:n.6783C>T
ENST00000354582.12:c.6748C>T	ENSP00000346595.8:p.Leu2250Phe
ENST00000443694.5:c.6727C>T	ENSP00000401671.2:p.Leu2243Phe
ENST00000354582.11:c.6748C>T	ENSP00000346595.8:p.Leu2250Phe
ENST00000357086.10:c.6628C>T	ENSP00000349597.4:p.Leu2210Phe
ENST00000443694.4:c.6727C>T	ENSP00000401671.2:p.Leu2243Phe
ENST00000456211.8:c.6583C>T	ENSP00000397885.2:p.Leu2195Phe
ENST00000481415.2:n.664C>T
ENST00000544951.6:c.997-18000C>T	ENSP00000440564.1:n.997-18000C>T
ENST00000647708.1:c.2671C>T
ENST00000647717.1:n.4276C>T
ENST00000648016.1:c.3107C>T
ENST00000648038.1:c.4534C>T	ENSP00000497872.1:p.Leu1512Phe
ENST00000648212.1:c.3680C>T
ENST00000648266.1:c.6745C>T	ENSP00000498014.1:p.Leu2249Phe
ENST00000648309.1:c.6700C>T	ENSP00000497026.1:p.Leu2234Phe
ENST00000648390.1:c.447-58036C>T
ENST00000648431.1:c.4074C>T
ENST00000648510.1:n.606C>T
ENST00000649015.2:c.6772C>T MANE Select	ENSP00000497605.1:p.Leu2258Phe
ENST00000649144.1:n.1820C>T
ENST00000649272.1:n.334C>T
ENST00000649694.1:n.4257C>T
ENST00000650294.1:c.6730C>T	ENSP00000498056.1:p.Leu2244Phe
ENST00000302640.12:c.6727C>T	ENSP00000306253.8:p.Leu2243Phe
ENST00000354582.10:c.6772C>T	ENSP00000346595.7:p.Leu2258Phe
ENST00000357086.9:c.6628C>T	ENSP00000349597.4:p.Leu2210Phe
ENST00000443694.3:c.6727C>T	ENSP00000401671.2:p.Leu2243Phe
ENST00000456211.7:c.6583C>T	ENSP00000397885.2:p.Leu2195Phe
ENST00000544951.5:c.997-18000C>T	ENSP00000440564.1:n.997-18000C>T
NM_001099952.2:c.6628C>T	NP_001093422.2:p.Leu2210Phe
NM_001168272.1:c.6727C>T	NP_001161744.1:p.Leu2243Phe
NM_002222.5:c.6583C>T	NP_002213.5:p.Leu2195Phe
XM_005265109.2:c.6703C>T	XP_005265166.1:p.Leu2235Phe
XM_005265110.2:c.6655C>T	XP_005265167.1:p.Leu2219Phe
XM_006713131.2:c.6706C>T	XP_006713194.1:p.Leu2236Phe
XM_011533681.1:c.6775C>T	XP_011531983.1:p.Leu2259Phe
XM_011533682.1:c.6775C>T	XP_011531984.1:p.Leu2259Phe
XM_011533683.1:c.6772C>T	XP_011531985.1:p.Leu2258Phe
XM_011533684.1:c.6748C>T	XP_011531986.1:p.Leu2250Phe
XM_011533685.1:c.6742C>T	XP_011531987.1:p.Leu2248Phe
XM_011533686.1:c.6739C>T	XP_011531988.1:p.Leu2247Phe
XM_011533687.1:c.6730C>T	XP_011531989.1:p.Leu2244Phe
XM_011533688.1:c.6703C>T	XP_011531990.1:p.Leu2235Phe
XM_011533689.1:c.6664C>T	XP_011531991.1:p.Leu2222Phe
XM_011533690.1:c.6775C>T	XP_011531992.1:p.Leu2259Phe
XM_005265109.3:c.6703C>T	XP_005265166.1:p.Leu2235Phe
XM_005265110.3:c.6655C>T	XP_005265167.1:p.Leu2219Phe
XM_006713131.3:c.6706C>T	XP_006713194.1:p.Leu2236Phe
XM_011533682.3:c.6775C>T	XP_011531984.1:p.Leu2259Phe
XM_011533683.3:c.6772C>T	XP_011531985.1:p.Leu2258Phe
XM_011533684.2:c.6748C>T	XP_011531986.1:p.Leu2250Phe
XM_011533685.2:c.6742C>T	XP_011531987.1:p.Leu2248Phe
XM_011533686.2:c.6739C>T	XP_011531988.1:p.Leu2247Phe
XM_011533687.2:c.6730C>T	XP_011531989.1:p.Leu2244Phe
XM_011533688.2:c.6703C>T	XP_011531990.1:p.Leu2235Phe
XM_011533690.2:c.6775C>T	XP_011531992.1:p.Leu2259Phe
XM_017006357.2:c.6772C>T	XP_016861846.1:p.Leu2258Phe
NM_001099952.3:c.6628C>T	NP_001093422.2:p.Leu2210Phe
NM_002222.6:c.6583C>T	NP_002213.5:p.Leu2195Phe
NM_001099952.4:c.6628C>T	NP_001093422.2:p.Leu2210Phe
NM_001168272.2:c.6727C>T	NP_001161744.1:p.Leu2243Phe
NM_001378452.1:c.6772C>T MANE Select	NP_001365381.1:p.Leu2258Phe
NM_002222.7:c.6583C>T	NP_002213.5:p.Leu2195Phe