Canonical Allele Identifier: CA432323089

Gene: ITPR1

Linked Data

• MyVariant Identifiers: chr3:g.4829736A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788052A>C , CM000665.2:g.4788052A>C	GRCh38
NC_000003.11:g.4829736A>C , CM000665.1:g.4829736A>C	GRCh37
NC_000003.10:g.4804736A>C	NCBI36
NG_016144.1:g.299705A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6732A>C	ENSP00000306253.9:n.6732A>C
ENST00000354582.12:c.6697A>C	ENSP00000346595.8:p.Arg2233=
ENST00000443694.5:c.6676A>C	ENSP00000401671.2:p.Arg2226=
ENST00000354582.11:c.6697A>C	ENSP00000346595.8:p.Arg2233=
ENST00000357086.10:c.6577A>C	ENSP00000349597.4:p.Arg2193=
ENST00000443694.4:c.6676A>C	ENSP00000401671.2:p.Arg2226=
ENST00000456211.8:c.6532A>C	ENSP00000397885.2:p.Arg2178=
ENST00000481415.2:n.613A>C
ENST00000544951.6:c.997-18051A>C	ENSP00000440564.1:n.997-18051A>C
ENST00000647708.1:c.2620A>C
ENST00000647717.1:n.4225A>C
ENST00000648016.1:c.3056A>C
ENST00000648038.1:c.4483A>C	ENSP00000497872.1:p.Arg1495=
ENST00000648212.1:c.3629A>C
ENST00000648266.1:c.6694A>C	ENSP00000498014.1:p.Arg2232=
ENST00000648309.1:c.6649A>C	ENSP00000497026.1:p.Arg2217=
ENST00000648390.1:c.447-58087A>C
ENST00000648431.1:c.4023A>C
ENST00000648510.1:n.555A>C
ENST00000649015.2:c.6721A>C MANE Select	ENSP00000497605.1:p.Arg2241=
ENST00000649144.1:n.1769A>C
ENST00000649272.1:n.283A>C
ENST00000649694.1:n.4206A>C
ENST00000650294.1:c.6679A>C	ENSP00000498056.1:p.Arg2227=
ENST00000302640.12:c.6676A>C	ENSP00000306253.8:p.Arg2226=
ENST00000354582.10:c.6721A>C	ENSP00000346595.7:p.Arg2241=
ENST00000357086.9:c.6577A>C	ENSP00000349597.4:p.Arg2193=
ENST00000443694.3:c.6676A>C	ENSP00000401671.2:p.Arg2226=
ENST00000456211.7:c.6532A>C	ENSP00000397885.2:p.Arg2178=
ENST00000544951.5:c.997-18051A>C	ENSP00000440564.1:n.997-18051A>C
NM_001099952.2:c.6577A>C	NP_001093422.2:p.Arg2193=
NM_001168272.1:c.6676A>C	NP_001161744.1:p.Arg2226=
NM_002222.5:c.6532A>C	NP_002213.5:p.Arg2178=
XM_005265109.2:c.6652A>C	XP_005265166.1:p.Arg2218=
XM_005265110.2:c.6604A>C	XP_005265167.1:p.Arg2202=
XM_006713131.2:c.6655A>C	XP_006713194.1:p.Arg2219=
XM_011533681.1:c.6724A>C	XP_011531983.1:p.Arg2242=
XM_011533682.1:c.6724A>C	XP_011531984.1:p.Arg2242=
XM_011533683.1:c.6721A>C	XP_011531985.1:p.Arg2241=
XM_011533684.1:c.6697A>C	XP_011531986.1:p.Arg2233=
XM_011533685.1:c.6691A>C	XP_011531987.1:p.Arg2231=
XM_011533686.1:c.6688A>C	XP_011531988.1:p.Arg2230=
XM_011533687.1:c.6679A>C	XP_011531989.1:p.Arg2227=
XM_011533688.1:c.6652A>C	XP_011531990.1:p.Arg2218=
XM_011533689.1:c.6613A>C	XP_011531991.1:p.Arg2205=
XM_011533690.1:c.6724A>C	XP_011531992.1:p.Arg2242=
XM_005265109.3:c.6652A>C	XP_005265166.1:p.Arg2218=
XM_005265110.3:c.6604A>C	XP_005265167.1:p.Arg2202=
XM_006713131.3:c.6655A>C	XP_006713194.1:p.Arg2219=
XM_011533682.3:c.6724A>C	XP_011531984.1:p.Arg2242=
XM_011533683.3:c.6721A>C	XP_011531985.1:p.Arg2241=
XM_011533684.2:c.6697A>C	XP_011531986.1:p.Arg2233=
XM_011533685.2:c.6691A>C	XP_011531987.1:p.Arg2231=
XM_011533686.2:c.6688A>C	XP_011531988.1:p.Arg2230=
XM_011533687.2:c.6679A>C	XP_011531989.1:p.Arg2227=
XM_011533688.2:c.6652A>C	XP_011531990.1:p.Arg2218=
XM_011533690.2:c.6724A>C	XP_011531992.1:p.Arg2242=
XM_017006357.2:c.6721A>C	XP_016861846.1:p.Arg2241=
NM_001099952.3:c.6577A>C	NP_001093422.2:p.Arg2193=
NM_002222.6:c.6532A>C	NP_002213.5:p.Arg2178=
NM_001099952.4:c.6577A>C	NP_001093422.2:p.Arg2193=
NM_001168272.2:c.6676A>C	NP_001161744.1:p.Arg2226=
NM_001378452.1:c.6721A>C MANE Select	NP_001365381.1:p.Arg2241=
NM_002222.7:c.6532A>C	NP_002213.5:p.Arg2178=