Canonical Allele Identifier: CA351640473

Gene: ITPR1

Linked Data

• MyVariant Identifiers: chr3:g.4829655G>C (hg19) ; chr3:g.4787971G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4787971G>C , CM000665.2:g.4787971G>C	GRCh38
NC_000003.11:g.4829655G>C , CM000665.1:g.4829655G>C	GRCh37
NC_000003.10:g.4804655G>C	NCBI36
NG_016144.1:g.299624G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000302640.13:c.6651G>C	ENSP00000306253.9:n.6651G>C
ENST00000354582.12:c.6616G>C	ENSP00000346595.8:p.Glu2206Gln
ENST00000443694.5:c.6595G>C	ENSP00000401671.2:p.Glu2199Gln
ENST00000354582.11:c.6616G>C	ENSP00000346595.8:p.Glu2206Gln
ENST00000357086.10:c.6496G>C	ENSP00000349597.4:p.Glu2166Gln
ENST00000443694.4:c.6595G>C	ENSP00000401671.2:p.Glu2199Gln
ENST00000456211.8:c.6451G>C	ENSP00000397885.2:p.Glu2151Gln
ENST00000481415.2:n.532G>C
ENST00000544951.6:c.997-18132G>C	ENSP00000440564.1:n.997-18132G>C
ENST00000647708.1:c.2539G>C
ENST00000647717.1:n.4144G>C
ENST00000648016.1:c.2975G>C
ENST00000648038.1:c.4402G>C	ENSP00000497872.1:p.Glu1468Gln
ENST00000648212.1:c.3548G>C
ENST00000648266.1:c.6613G>C	ENSP00000498014.1:p.Glu2205Gln
ENST00000648309.1:c.6568G>C	ENSP00000497026.1:p.Glu2190Gln
ENST00000648390.1:c.447-58168G>C
ENST00000648431.1:c.3942G>C
ENST00000648510.1:n.474G>C
ENST00000649015.2:c.6640G>C MANE Select	ENSP00000497605.1:p.Glu2214Gln
ENST00000649144.1:n.1688G>C
ENST00000649272.1:n.202G>C
ENST00000649694.1:n.4125G>C
ENST00000650294.1:c.6598G>C	ENSP00000498056.1:p.Glu2200Gln
ENST00000302640.12:c.6595G>C	ENSP00000306253.8:p.Glu2199Gln
ENST00000354582.10:c.6640G>C	ENSP00000346595.7:p.Glu2214Gln
ENST00000357086.9:c.6496G>C	ENSP00000349597.4:p.Glu2166Gln
ENST00000443694.3:c.6595G>C	ENSP00000401671.2:p.Glu2199Gln
ENST00000456211.7:c.6451G>C	ENSP00000397885.2:p.Glu2151Gln
ENST00000481415.1:n.532G>C
ENST00000544951.5:c.997-18132G>C	ENSP00000440564.1:n.997-18132G>C
NM_001099952.2:c.6496G>C	NP_001093422.2:p.Glu2166Gln
NM_001168272.1:c.6595G>C	NP_001161744.1:p.Glu2199Gln
NM_002222.5:c.6451G>C	NP_002213.5:p.Glu2151Gln
XM_005265109.2:c.6571G>C	XP_005265166.1:p.Glu2191Gln
XM_005265110.2:c.6523G>C	XP_005265167.1:p.Glu2175Gln
XM_006713131.2:c.6574G>C	XP_006713194.1:p.Glu2192Gln
XM_011533681.1:c.6643G>C	XP_011531983.1:p.Glu2215Gln
XM_011533682.1:c.6643G>C	XP_011531984.1:p.Glu2215Gln
XM_011533683.1:c.6640G>C	XP_011531985.1:p.Glu2214Gln
XM_011533684.1:c.6616G>C	XP_011531986.1:p.Glu2206Gln
XM_011533685.1:c.6610G>C	XP_011531987.1:p.Glu2204Gln
XM_011533686.1:c.6607G>C	XP_011531988.1:p.Glu2203Gln
XM_011533687.1:c.6598G>C	XP_011531989.1:p.Glu2200Gln
XM_011533688.1:c.6571G>C	XP_011531990.1:p.Glu2191Gln
XM_011533689.1:c.6532G>C	XP_011531991.1:p.Glu2178Gln
XM_011533690.1:c.6643G>C	XP_011531992.1:p.Glu2215Gln
XM_005265109.3:c.6571G>C	XP_005265166.1:p.Glu2191Gln
XM_005265110.3:c.6523G>C	XP_005265167.1:p.Glu2175Gln
XM_006713131.3:c.6574G>C	XP_006713194.1:p.Glu2192Gln
XM_011533682.3:c.6643G>C	XP_011531984.1:p.Glu2215Gln
XM_011533683.3:c.6640G>C	XP_011531985.1:p.Glu2214Gln
XM_011533684.2:c.6616G>C	XP_011531986.1:p.Glu2206Gln
XM_011533685.2:c.6610G>C	XP_011531987.1:p.Glu2204Gln
XM_011533686.2:c.6607G>C	XP_011531988.1:p.Glu2203Gln
XM_011533687.2:c.6598G>C	XP_011531989.1:p.Glu2200Gln
XM_011533688.2:c.6571G>C	XP_011531990.1:p.Glu2191Gln
XM_011533690.2:c.6643G>C	XP_011531992.1:p.Glu2215Gln
XM_017006357.2:c.6640G>C	XP_016861846.1:p.Glu2214Gln
NM_001099952.3:c.6496G>C	NP_001093422.2:p.Glu2166Gln
NM_002222.6:c.6451G>C	NP_002213.5:p.Glu2151Gln
NM_001099952.4:c.6496G>C	NP_001093422.2:p.Glu2166Gln
NM_001168272.2:c.6595G>C	NP_001161744.1:p.Glu2199Gln
NM_001378452.1:c.6640G>C MANE Select	NP_001365381.1:p.Glu2214Gln
NM_002222.7:c.6451G>C	NP_002213.5:p.Glu2151Gln