Canonical Allele Identifier: CA11395295
Gene: ITPR1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs17786144

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4787891T>C , CM000665.2:g.4787891T>C GRCh38
NC_000003.11:g.4829575T>C , CM000665.1:g.4829575T>C GRCh37
NC_000003.10:g.4804575T>C NCBI36
NG_016144.1:g.299544T>C

Transcript Alleles

HGVS Amino-acid change
NM_001099952.2:c.6472-56T>C VV NP_001093422.2:p.=
NM_001168272.1:c.6571-56T>C VV NP_001161744.1:p.=
NM_002222.5:c.6427-56T>C VV NP_002213.5:p.=
XM_005265109.2:c.6547-56T>C XP_005265166.1:p.=
XM_005265110.2:c.6499-56T>C XP_005265167.1:p.=
XM_006713131.2:c.6550-56T>C XP_006713194.1:p.=
XM_011533681.1:c.6619-56T>C XP_011531983.1:p.=
XM_011533682.1:c.6619-56T>C XP_011531984.1:p.=
XM_011533683.1:c.6616-56T>C XP_011531985.1:p.=
XM_011533684.1:c.6592-56T>C XP_011531986.1:p.=
XM_011533685.1:c.6586-56T>C XP_011531987.1:p.=
XM_011533686.1:c.6583-56T>C XP_011531988.1:p.=
XM_011533687.1:c.6574-56T>C XP_011531989.1:p.=
XM_011533688.1:c.6547-56T>C XP_011531990.1:p.=
XM_011533689.1:c.6508-56T>C XP_011531991.1:p.=
XM_011533690.1:c.6619-56T>C XP_011531992.1:p.=
XM_005265109.3:c.6547-56T>C XP_005265166.1:p.=
XM_005265110.3:c.6499-56T>C XP_005265167.1:p.=
XM_006713131.3:c.6550-56T>C XP_006713194.1:p.=
XM_011533682.3:c.6619-56T>C XP_011531984.1:p.=
XM_011533683.3:c.6616-56T>C XP_011531985.1:p.=
XM_011533684.2:c.6592-56T>C XP_011531986.1:p.=
XM_011533685.2:c.6586-56T>C XP_011531987.1:p.=
XM_011533686.2:c.6583-56T>C XP_011531988.1:p.=
XM_011533687.2:c.6574-56T>C XP_011531989.1:p.=
XM_011533688.2:c.6547-56T>C XP_011531990.1:p.=
XM_011533690.2:c.6619-56T>C XP_011531992.1:p.=
XM_017006357.2:c.6616-56T>C XP_016861846.1:p.=
ENST00000302640.12:c.6571-56T>C ENSP00000306253.8:p.=
ENST00000354582.10:c.6616-56T>C ENSP00000346595.7:p.=
ENST00000357086.9:c.6472-56T>C ENSP00000349597.4:p.=
ENST00000443694.3:n.6571-56T>C ENSP00000401671.2:p.=
ENST00000456211.7:c.6427-56T>C ENSP00000397885.2:p.=
ENST00000481415.1:n.508-56T>C
ENST00000544951.5:c.997-18212T>C ENSP00000440564.1:p.=