Canonical Allele Identifier: CA432323182

Gene: ITPR1

Linked Data

• gnomAD v4: 3-4788078-T-C
• MyVariant Identifiers: chr3:g.4829762T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788078T>C , CM000665.2:g.4788078T>C	GRCh38
NC_000003.11:g.4829762T>C , CM000665.1:g.4829762T>C	GRCh37
NC_000003.10:g.4804762T>C	NCBI36
NG_016144.1:g.299731T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6758T>C	ENSP00000306253.9:n.6758T>C
ENST00000354582.12:c.6723T>C	ENSP00000346595.8:p.Asn2241=
ENST00000443694.5:c.6702T>C	ENSP00000401671.2:p.Asn2234=
ENST00000354582.11:c.6723T>C	ENSP00000346595.8:p.Asn2241=
ENST00000357086.10:c.6603T>C	ENSP00000349597.4:p.Asn2201=
ENST00000443694.4:c.6702T>C	ENSP00000401671.2:p.Asn2234=
ENST00000456211.8:c.6558T>C	ENSP00000397885.2:p.Asn2186=
ENST00000481415.2:n.639T>C
ENST00000544951.6:c.997-18025T>C	ENSP00000440564.1:n.997-18025T>C
ENST00000647708.1:c.2646T>C
ENST00000647717.1:n.4251T>C
ENST00000648016.1:c.3082T>C
ENST00000648038.1:c.4509T>C	ENSP00000497872.1:p.Asn1503=
ENST00000648212.1:c.3655T>C
ENST00000648266.1:c.6720T>C	ENSP00000498014.1:p.Asn2240=
ENST00000648309.1:c.6675T>C	ENSP00000497026.1:p.Asn2225=
ENST00000648390.1:c.447-58061T>C
ENST00000648431.1:c.4049T>C
ENST00000648510.1:n.581T>C
ENST00000649015.2:c.6747T>C MANE Select	ENSP00000497605.1:p.Asn2249=
ENST00000649144.1:n.1795T>C
ENST00000649272.1:n.309T>C
ENST00000649694.1:n.4232T>C
ENST00000650294.1:c.6705T>C	ENSP00000498056.1:p.Asn2235=
ENST00000302640.12:c.6702T>C	ENSP00000306253.8:p.Asn2234=
ENST00000354582.10:c.6747T>C	ENSP00000346595.7:p.Asn2249=
ENST00000357086.9:c.6603T>C	ENSP00000349597.4:p.Asn2201=
ENST00000443694.3:c.6702T>C	ENSP00000401671.2:p.Asn2234=
ENST00000456211.7:c.6558T>C	ENSP00000397885.2:p.Asn2186=
ENST00000544951.5:c.997-18025T>C	ENSP00000440564.1:n.997-18025T>C
NM_001099952.2:c.6603T>C	NP_001093422.2:p.Asn2201=
NM_001168272.1:c.6702T>C	NP_001161744.1:p.Asn2234=
NM_002222.5:c.6558T>C	NP_002213.5:p.Asn2186=
XM_005265109.2:c.6678T>C	XP_005265166.1:p.Asn2226=
XM_005265110.2:c.6630T>C	XP_005265167.1:p.Asn2210=
XM_006713131.2:c.6681T>C	XP_006713194.1:p.Asn2227=
XM_011533681.1:c.6750T>C	XP_011531983.1:p.Asn2250=
XM_011533682.1:c.6750T>C	XP_011531984.1:p.Asn2250=
XM_011533683.1:c.6747T>C	XP_011531985.1:p.Asn2249=
XM_011533684.1:c.6723T>C	XP_011531986.1:p.Asn2241=
XM_011533685.1:c.6717T>C	XP_011531987.1:p.Asn2239=
XM_011533686.1:c.6714T>C	XP_011531988.1:p.Asn2238=
XM_011533687.1:c.6705T>C	XP_011531989.1:p.Asn2235=
XM_011533688.1:c.6678T>C	XP_011531990.1:p.Asn2226=
XM_011533689.1:c.6639T>C	XP_011531991.1:p.Asn2213=
XM_011533690.1:c.6750T>C	XP_011531992.1:p.Asn2250=
XM_005265109.3:c.6678T>C	XP_005265166.1:p.Asn2226=
XM_005265110.3:c.6630T>C	XP_005265167.1:p.Asn2210=
XM_006713131.3:c.6681T>C	XP_006713194.1:p.Asn2227=
XM_011533682.3:c.6750T>C	XP_011531984.1:p.Asn2250=
XM_011533683.3:c.6747T>C	XP_011531985.1:p.Asn2249=
XM_011533684.2:c.6723T>C	XP_011531986.1:p.Asn2241=
XM_011533685.2:c.6717T>C	XP_011531987.1:p.Asn2239=
XM_011533686.2:c.6714T>C	XP_011531988.1:p.Asn2238=
XM_011533687.2:c.6705T>C	XP_011531989.1:p.Asn2235=
XM_011533688.2:c.6678T>C	XP_011531990.1:p.Asn2226=
XM_011533690.2:c.6750T>C	XP_011531992.1:p.Asn2250=
XM_017006357.2:c.6747T>C	XP_016861846.1:p.Asn2249=
NM_001099952.3:c.6603T>C	NP_001093422.2:p.Asn2201=
NM_002222.6:c.6558T>C	NP_002213.5:p.Asn2186=
NM_001099952.4:c.6603T>C	NP_001093422.2:p.Asn2201=
NM_001168272.2:c.6702T>C	NP_001161744.1:p.Asn2234=
NM_001378452.1:c.6747T>C MANE Select	NP_001365381.1:p.Asn2249=
NM_002222.7:c.6558T>C	NP_002213.5:p.Asn2186=