Canonical Allele Identifier: CA351647508
Community Standard Title: NM_001378452.1(ITPR1):c.7297G>A (p.Glu2433Lys)
Gene: ITPR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4811289G>A , CM000665.2:g.4811289G>A GRCh38
NC_000003.11:g.4852973G>A , CM000665.1:g.4852973G>A GRCh37
NC_000003.10:g.4827973G>A NCBI36
NG_016144.1:g.322942G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001378452.1:c.7297G>A MANE Select NP_001365381.1:p.Glu2433Lys
ENST00000649015.2:c.7297G>A MANE Select ENSP00000497605.1:p.Glu2433Lys
NM_001099952.2:c.7153G>A NP_001093422.2:p.Glu2385Lys
NM_001099952.3:c.7153G>A NP_001093422.2:p.Glu2385Lys
NM_001099952.4:c.7153G>A NP_001093422.2:p.Glu2385Lys
NM_001168272.1:c.7252G>A NP_001161744.1:p.Glu2418Lys
NM_001168272.2:c.7252G>A NP_001161744.1:p.Glu2418Lys
NM_002222.5:c.7108G>A NP_002213.5:p.Glu2370Lys
NM_002222.6:c.7108G>A NP_002213.5:p.Glu2370Lys
NM_002222.7:c.7108G>A NP_002213.5:p.Glu2370Lys
ENST00000302640.12:c.7252G>A ENSP00000306253.8:p.Glu2418Lys
ENST00000302640.13:c.7308G>A ENSP00000306253.9:n.7308G>A
ENST00000354582.10:c.7297G>A ENSP00000346595.7:p.Glu2433Lys
ENST00000354582.11:c.7273G>A ENSP00000346595.8:p.Glu2425Lys
ENST00000354582.12:c.7273G>A ENSP00000346595.8:p.Glu2425Lys
ENST00000357086.10:c.7153G>A ENSP00000349597.4:p.Glu2385Lys
ENST00000357086.9:c.7153G>A ENSP00000349597.4:p.Glu2385Lys
ENST00000443694.3:c.7252G>A ENSP00000401671.2:p.Glu2418Lys
ENST00000443694.4:c.7252G>A ENSP00000401671.2:p.Glu2418Lys
ENST00000443694.5:c.7252G>A ENSP00000401671.2:p.Glu2418Lys
ENST00000456211.7:c.7108G>A ENSP00000397885.2:p.Glu2370Lys
ENST00000456211.8:c.7108G>A ENSP00000397885.2:p.Glu2370Lys
ENST00000463980.5:n.599G>A
ENST00000463980.6:n.614G>A
ENST00000467545.5:n.554G>A
ENST00000467545.6:n.554G>A
ENST00000490572.1:n.461G>A
ENST00000493491.5:n.575G>A
ENST00000493491.6:n.575G>A
ENST00000544951.5:c.1186G>A ENSP00000440564.1:p.Glu396Lys
ENST00000544951.6:c.1186G>A ENSP00000440564.1:p.Glu396Lys
ENST00000647708.1:c.3196G>A
ENST00000647717.1:n.4801G>A
ENST00000647997.1:n.317G>A
ENST00000648016.1:c.3665G>A
ENST00000648038.1:c.5059G>A ENSP00000497872.1:p.Glu1687Lys
ENST00000648208.1:n.308G>A
ENST00000648212.1:c.4238G>A
ENST00000648266.1:c.7270G>A ENSP00000498014.1:p.Glu2424Lys
ENST00000648309.1:c.7225G>A ENSP00000497026.1:p.Glu2409Lys
ENST00000648390.1:c.447-34850G>A
ENST00000648431.1:c.4476G>A
ENST00000648770.1:n.391G>A
ENST00000649144.1:n.2345G>A
ENST00000649314.1:n.425G>A
ENST00000649694.1:n.4782G>A
ENST00000649767.1:n.629G>A
ENST00000650074.1:n.607G>A
ENST00000650139.1:n.2061G>A
ENST00000650294.1:c.7255G>A ENSP00000498056.1:p.Glu2419Lys
ENST00000650552.1:n.723G>A
XM_005265109.2:c.7228G>A XP_005265166.1:p.Glu2410Lys
XM_005265109.3:c.7228G>A XP_005265166.1:p.Glu2410Lys
XM_005265110.2:c.7180G>A XP_005265167.1:p.Glu2394Lys
XM_005265110.3:c.7180G>A XP_005265167.1:p.Glu2394Lys
XM_006713131.2:c.7231G>A XP_006713194.1:p.Glu2411Lys
XM_006713131.3:c.7231G>A XP_006713194.1:p.Glu2411Lys
XM_011533681.1:c.7300G>A XP_011531983.1:p.Glu2434Lys
XM_011533682.1:c.7300G>A XP_011531984.1:p.Glu2434Lys
XM_011533682.3:c.7300G>A XP_011531984.1:p.Glu2434Lys
XM_011533683.1:c.7297G>A XP_011531985.1:p.Glu2433Lys
XM_011533683.3:c.7297G>A XP_011531985.1:p.Glu2433Lys
XM_011533684.1:c.7273G>A XP_011531986.1:p.Glu2425Lys
XM_011533684.2:c.7273G>A XP_011531986.1:p.Glu2425Lys
XM_011533685.1:c.7267G>A XP_011531987.1:p.Glu2423Lys
XM_011533685.2:c.7267G>A XP_011531987.1:p.Glu2423Lys
XM_011533686.1:c.7264G>A XP_011531988.1:p.Glu2422Lys
XM_011533686.2:c.7264G>A XP_011531988.1:p.Glu2422Lys
XM_011533687.1:c.7255G>A XP_011531989.1:p.Glu2419Lys
XM_011533687.2:c.7255G>A XP_011531989.1:p.Glu2419Lys
XM_011533688.1:c.7228G>A XP_011531990.1:p.Glu2410Lys
XM_011533688.2:c.7228G>A XP_011531990.1:p.Glu2410Lys
XM_011533689.1:c.7189G>A XP_011531991.1:p.Glu2397Lys
XM_011533690.1:c.7177G>A XP_011531992.1:p.Glu2393Lys
XM_011533690.2:c.7177G>A XP_011531992.1:p.Glu2393Lys
XM_017006357.2:c.7174G>A XP_016861846.1:p.Glu2392Lys