Canonical Allele Identifier: CA351640574

Gene: ITPR1

Linked Data

• MyVariant Identifiers: chr3:g.4829698C>T (hg19) ; chr3:g.4788014C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788014C>T , CM000665.2:g.4788014C>T	GRCh38
NC_000003.11:g.4829698C>T , CM000665.1:g.4829698C>T	GRCh37
NC_000003.10:g.4804698C>T	NCBI36
NG_016144.1:g.299667C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6694C>T	ENSP00000306253.9:n.6694C>T
ENST00000354582.12:c.6659C>T	ENSP00000346595.8:p.Thr2220Ile
ENST00000443694.5:c.6638C>T	ENSP00000401671.2:p.Thr2213Ile
ENST00000354582.11:c.6659C>T	ENSP00000346595.8:p.Thr2220Ile
ENST00000357086.10:c.6539C>T	ENSP00000349597.4:p.Thr2180Ile
ENST00000443694.4:c.6638C>T	ENSP00000401671.2:p.Thr2213Ile
ENST00000456211.8:c.6494C>T	ENSP00000397885.2:p.Thr2165Ile
ENST00000481415.2:n.575C>T
ENST00000544951.6:c.997-18089C>T	ENSP00000440564.1:n.997-18089C>T
ENST00000647708.1:c.2582C>T
ENST00000647717.1:n.4187C>T
ENST00000648016.1:c.3018C>T
ENST00000648038.1:c.4445C>T	ENSP00000497872.1:p.Thr1482Ile
ENST00000648212.1:c.3591C>T
ENST00000648266.1:c.6656C>T	ENSP00000498014.1:p.Thr2219Ile
ENST00000648309.1:c.6611C>T	ENSP00000497026.1:p.Thr2204Ile
ENST00000648390.1:c.447-58125C>T
ENST00000648431.1:c.3985C>T
ENST00000648510.1:n.517C>T
ENST00000649015.2:c.6683C>T MANE Select	ENSP00000497605.1:p.Thr2228Ile
ENST00000649144.1:n.1731C>T
ENST00000649272.1:n.245C>T
ENST00000649694.1:n.4168C>T
ENST00000650294.1:c.6641C>T	ENSP00000498056.1:p.Thr2214Ile
ENST00000302640.12:c.6638C>T	ENSP00000306253.8:p.Thr2213Ile
ENST00000354582.10:c.6683C>T	ENSP00000346595.7:p.Thr2228Ile
ENST00000357086.9:c.6539C>T	ENSP00000349597.4:p.Thr2180Ile
ENST00000443694.3:c.6638C>T	ENSP00000401671.2:p.Thr2213Ile
ENST00000456211.7:c.6494C>T	ENSP00000397885.2:p.Thr2165Ile
ENST00000544951.5:c.997-18089C>T	ENSP00000440564.1:n.997-18089C>T
NM_001099952.2:c.6539C>T	NP_001093422.2:p.Thr2180Ile
NM_001168272.1:c.6638C>T	NP_001161744.1:p.Thr2213Ile
NM_002222.5:c.6494C>T	NP_002213.5:p.Thr2165Ile
XM_005265109.2:c.6614C>T	XP_005265166.1:p.Thr2205Ile
XM_005265110.2:c.6566C>T	XP_005265167.1:p.Thr2189Ile
XM_006713131.2:c.6617C>T	XP_006713194.1:p.Thr2206Ile
XM_011533681.1:c.6686C>T	XP_011531983.1:p.Thr2229Ile
XM_011533682.1:c.6686C>T	XP_011531984.1:p.Thr2229Ile
XM_011533683.1:c.6683C>T	XP_011531985.1:p.Thr2228Ile
XM_011533684.1:c.6659C>T	XP_011531986.1:p.Thr2220Ile
XM_011533685.1:c.6653C>T	XP_011531987.1:p.Thr2218Ile
XM_011533686.1:c.6650C>T	XP_011531988.1:p.Thr2217Ile
XM_011533687.1:c.6641C>T	XP_011531989.1:p.Thr2214Ile
XM_011533688.1:c.6614C>T	XP_011531990.1:p.Thr2205Ile
XM_011533689.1:c.6575C>T	XP_011531991.1:p.Thr2192Ile
XM_011533690.1:c.6686C>T	XP_011531992.1:p.Thr2229Ile
XM_005265109.3:c.6614C>T	XP_005265166.1:p.Thr2205Ile
XM_005265110.3:c.6566C>T	XP_005265167.1:p.Thr2189Ile
XM_006713131.3:c.6617C>T	XP_006713194.1:p.Thr2206Ile
XM_011533682.3:c.6686C>T	XP_011531984.1:p.Thr2229Ile
XM_011533683.3:c.6683C>T	XP_011531985.1:p.Thr2228Ile
XM_011533684.2:c.6659C>T	XP_011531986.1:p.Thr2220Ile
XM_011533685.2:c.6653C>T	XP_011531987.1:p.Thr2218Ile
XM_011533686.2:c.6650C>T	XP_011531988.1:p.Thr2217Ile
XM_011533687.2:c.6641C>T	XP_011531989.1:p.Thr2214Ile
XM_011533688.2:c.6614C>T	XP_011531990.1:p.Thr2205Ile
XM_011533690.2:c.6686C>T	XP_011531992.1:p.Thr2229Ile
XM_017006357.2:c.6683C>T	XP_016861846.1:p.Thr2228Ile
NM_001099952.3:c.6539C>T	NP_001093422.2:p.Thr2180Ile
NM_002222.6:c.6494C>T	NP_002213.5:p.Thr2165Ile
NM_001099952.4:c.6539C>T	NP_001093422.2:p.Thr2180Ile
NM_001168272.2:c.6638C>T	NP_001161744.1:p.Thr2213Ile
NM_001378452.1:c.6683C>T MANE Select	NP_001365381.1:p.Thr2228Ile
NM_002222.7:c.6494C>T	NP_002213.5:p.Thr2165Ile