Canonical Allele Identifier: CA351640540

Gene: ITPR1

Linked Data

• MyVariant Identifiers: chr3:g.4829685T>A (hg19) ; chr3:g.4788001T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788001T>A , CM000665.2:g.4788001T>A	GRCh38
NC_000003.11:g.4829685T>A , CM000665.1:g.4829685T>A	GRCh37
NC_000003.10:g.4804685T>A	NCBI36
NG_016144.1:g.299654T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6681T>A	ENSP00000306253.9:n.6681T>A
ENST00000354582.12:c.6646T>A	ENSP00000346595.8:p.Cys2216Ser
ENST00000443694.5:c.6625T>A	ENSP00000401671.2:p.Cys2209Ser
ENST00000354582.11:c.6646T>A	ENSP00000346595.8:p.Cys2216Ser
ENST00000357086.10:c.6526T>A	ENSP00000349597.4:p.Cys2176Ser
ENST00000443694.4:c.6625T>A	ENSP00000401671.2:p.Cys2209Ser
ENST00000456211.8:c.6481T>A	ENSP00000397885.2:p.Cys2161Ser
ENST00000481415.2:n.562T>A
ENST00000544951.6:c.997-18102T>A	ENSP00000440564.1:n.997-18102T>A
ENST00000647708.1:c.2569T>A
ENST00000647717.1:n.4174T>A
ENST00000648016.1:c.3005T>A
ENST00000648038.1:c.4432T>A	ENSP00000497872.1:p.Cys1478Ser
ENST00000648212.1:c.3578T>A
ENST00000648266.1:c.6643T>A	ENSP00000498014.1:p.Cys2215Ser
ENST00000648309.1:c.6598T>A	ENSP00000497026.1:p.Cys2200Ser
ENST00000648390.1:c.447-58138T>A
ENST00000648431.1:c.3972T>A
ENST00000648510.1:n.504T>A
ENST00000649015.2:c.6670T>A MANE Select	ENSP00000497605.1:p.Cys2224Ser
ENST00000649144.1:n.1718T>A
ENST00000649272.1:n.232T>A
ENST00000649694.1:n.4155T>A
ENST00000650294.1:c.6628T>A	ENSP00000498056.1:p.Cys2210Ser
ENST00000302640.12:c.6625T>A	ENSP00000306253.8:p.Cys2209Ser
ENST00000354582.10:c.6670T>A	ENSP00000346595.7:p.Cys2224Ser
ENST00000357086.9:c.6526T>A	ENSP00000349597.4:p.Cys2176Ser
ENST00000443694.3:c.6625T>A	ENSP00000401671.2:p.Cys2209Ser
ENST00000456211.7:c.6481T>A	ENSP00000397885.2:p.Cys2161Ser
ENST00000544951.5:c.997-18102T>A	ENSP00000440564.1:n.997-18102T>A
NM_001099952.2:c.6526T>A	NP_001093422.2:p.Cys2176Ser
NM_001168272.1:c.6625T>A	NP_001161744.1:p.Cys2209Ser
NM_002222.5:c.6481T>A	NP_002213.5:p.Cys2161Ser
XM_005265109.2:c.6601T>A	XP_005265166.1:p.Cys2201Ser
XM_005265110.2:c.6553T>A	XP_005265167.1:p.Cys2185Ser
XM_006713131.2:c.6604T>A	XP_006713194.1:p.Cys2202Ser
XM_011533681.1:c.6673T>A	XP_011531983.1:p.Cys2225Ser
XM_011533682.1:c.6673T>A	XP_011531984.1:p.Cys2225Ser
XM_011533683.1:c.6670T>A	XP_011531985.1:p.Cys2224Ser
XM_011533684.1:c.6646T>A	XP_011531986.1:p.Cys2216Ser
XM_011533685.1:c.6640T>A	XP_011531987.1:p.Cys2214Ser
XM_011533686.1:c.6637T>A	XP_011531988.1:p.Cys2213Ser
XM_011533687.1:c.6628T>A	XP_011531989.1:p.Cys2210Ser
XM_011533688.1:c.6601T>A	XP_011531990.1:p.Cys2201Ser
XM_011533689.1:c.6562T>A	XP_011531991.1:p.Cys2188Ser
XM_011533690.1:c.6673T>A	XP_011531992.1:p.Cys2225Ser
XM_005265109.3:c.6601T>A	XP_005265166.1:p.Cys2201Ser
XM_005265110.3:c.6553T>A	XP_005265167.1:p.Cys2185Ser
XM_006713131.3:c.6604T>A	XP_006713194.1:p.Cys2202Ser
XM_011533682.3:c.6673T>A	XP_011531984.1:p.Cys2225Ser
XM_011533683.3:c.6670T>A	XP_011531985.1:p.Cys2224Ser
XM_011533684.2:c.6646T>A	XP_011531986.1:p.Cys2216Ser
XM_011533685.2:c.6640T>A	XP_011531987.1:p.Cys2214Ser
XM_011533686.2:c.6637T>A	XP_011531988.1:p.Cys2213Ser
XM_011533687.2:c.6628T>A	XP_011531989.1:p.Cys2210Ser
XM_011533688.2:c.6601T>A	XP_011531990.1:p.Cys2201Ser
XM_011533690.2:c.6673T>A	XP_011531992.1:p.Cys2225Ser
XM_017006357.2:c.6670T>A	XP_016861846.1:p.Cys2224Ser
NM_001099952.3:c.6526T>A	NP_001093422.2:p.Cys2176Ser
NM_002222.6:c.6481T>A	NP_002213.5:p.Cys2161Ser
NM_001099952.4:c.6526T>A	NP_001093422.2:p.Cys2176Ser
NM_001168272.2:c.6625T>A	NP_001161744.1:p.Cys2209Ser
NM_001378452.1:c.6670T>A MANE Select	NP_001365381.1:p.Cys2224Ser
NM_002222.7:c.6481T>A	NP_002213.5:p.Cys2161Ser