Canonical Allele Identifier: CA351640598

Gene: ITPR1

Linked Data

• MyVariant Identifiers: chr3:g.4829709A>T (hg19) ; chr3:g.4788025A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788025A>T , CM000665.2:g.4788025A>T	GRCh38
NC_000003.11:g.4829709A>T , CM000665.1:g.4829709A>T	GRCh37
NC_000003.10:g.4804709A>T	NCBI36
NG_016144.1:g.299678A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6705A>T	ENSP00000306253.9:n.6705A>T
ENST00000354582.12:c.6670A>T	ENSP00000346595.8:p.Lys2224Ter
ENST00000443694.5:c.6649A>T	ENSP00000401671.2:p.Lys2217Ter
ENST00000354582.11:c.6670A>T	ENSP00000346595.8:p.Lys2224Ter
ENST00000357086.10:c.6550A>T	ENSP00000349597.4:p.Lys2184Ter
ENST00000443694.4:c.6649A>T	ENSP00000401671.2:p.Lys2217Ter
ENST00000456211.8:c.6505A>T	ENSP00000397885.2:p.Lys2169Ter
ENST00000481415.2:n.586A>T
ENST00000544951.6:c.997-18078A>T	ENSP00000440564.1:n.997-18078A>T
ENST00000647708.1:c.2593A>T
ENST00000647717.1:n.4198A>T
ENST00000648016.1:c.3029A>T
ENST00000648038.1:c.4456A>T	ENSP00000497872.1:p.Lys1486Ter
ENST00000648212.1:c.3602A>T
ENST00000648266.1:c.6667A>T	ENSP00000498014.1:p.Lys2223Ter
ENST00000648309.1:c.6622A>T	ENSP00000497026.1:p.Lys2208Ter
ENST00000648390.1:c.447-58114A>T
ENST00000648431.1:c.3996A>T
ENST00000648510.1:n.528A>T
ENST00000649015.2:c.6694A>T MANE Select	ENSP00000497605.1:p.Lys2232Ter
ENST00000649144.1:n.1742A>T
ENST00000649272.1:n.256A>T
ENST00000649694.1:n.4179A>T
ENST00000650294.1:c.6652A>T	ENSP00000498056.1:p.Lys2218Ter
ENST00000302640.12:c.6649A>T	ENSP00000306253.8:p.Lys2217Ter
ENST00000354582.10:c.6694A>T	ENSP00000346595.7:p.Lys2232Ter
ENST00000357086.9:c.6550A>T	ENSP00000349597.4:p.Lys2184Ter
ENST00000443694.3:c.6649A>T	ENSP00000401671.2:p.Lys2217Ter
ENST00000456211.7:c.6505A>T	ENSP00000397885.2:p.Lys2169Ter
ENST00000544951.5:c.997-18078A>T	ENSP00000440564.1:n.997-18078A>T
NM_001099952.2:c.6550A>T	NP_001093422.2:p.Lys2184Ter
NM_001168272.1:c.6649A>T	NP_001161744.1:p.Lys2217Ter
NM_002222.5:c.6505A>T	NP_002213.5:p.Lys2169Ter
XM_005265109.2:c.6625A>T	XP_005265166.1:p.Lys2209Ter
XM_005265110.2:c.6577A>T	XP_005265167.1:p.Lys2193Ter
XM_006713131.2:c.6628A>T	XP_006713194.1:p.Lys2210Ter
XM_011533681.1:c.6697A>T	XP_011531983.1:p.Lys2233Ter
XM_011533682.1:c.6697A>T	XP_011531984.1:p.Lys2233Ter
XM_011533683.1:c.6694A>T	XP_011531985.1:p.Lys2232Ter
XM_011533684.1:c.6670A>T	XP_011531986.1:p.Lys2224Ter
XM_011533685.1:c.6664A>T	XP_011531987.1:p.Lys2222Ter
XM_011533686.1:c.6661A>T	XP_011531988.1:p.Lys2221Ter
XM_011533687.1:c.6652A>T	XP_011531989.1:p.Lys2218Ter
XM_011533688.1:c.6625A>T	XP_011531990.1:p.Lys2209Ter
XM_011533689.1:c.6586A>T	XP_011531991.1:p.Lys2196Ter
XM_011533690.1:c.6697A>T	XP_011531992.1:p.Lys2233Ter
XM_005265109.3:c.6625A>T	XP_005265166.1:p.Lys2209Ter
XM_005265110.3:c.6577A>T	XP_005265167.1:p.Lys2193Ter
XM_006713131.3:c.6628A>T	XP_006713194.1:p.Lys2210Ter
XM_011533682.3:c.6697A>T	XP_011531984.1:p.Lys2233Ter
XM_011533683.3:c.6694A>T	XP_011531985.1:p.Lys2232Ter
XM_011533684.2:c.6670A>T	XP_011531986.1:p.Lys2224Ter
XM_011533685.2:c.6664A>T	XP_011531987.1:p.Lys2222Ter
XM_011533686.2:c.6661A>T	XP_011531988.1:p.Lys2221Ter
XM_011533687.2:c.6652A>T	XP_011531989.1:p.Lys2218Ter
XM_011533688.2:c.6625A>T	XP_011531990.1:p.Lys2209Ter
XM_011533690.2:c.6697A>T	XP_011531992.1:p.Lys2233Ter
XM_017006357.2:c.6694A>T	XP_016861846.1:p.Lys2232Ter
NM_001099952.3:c.6550A>T	NP_001093422.2:p.Lys2184Ter
NM_002222.6:c.6505A>T	NP_002213.5:p.Lys2169Ter
NM_001099952.4:c.6550A>T	NP_001093422.2:p.Lys2184Ter
NM_001168272.2:c.6649A>T	NP_001161744.1:p.Lys2217Ter
NM_001378452.1:c.6694A>T MANE Select	NP_001365381.1:p.Lys2232Ter
NM_002222.7:c.6505A>T	NP_002213.5:p.Lys2169Ter