Canonical Allele Identifier: CA351640524

Gene: ITPR1

Linked Data

• MyVariant Identifiers: chr3:g.4829677C>A (hg19) ; chr3:g.4787993C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4787993C>A , CM000665.2:g.4787993C>A	GRCh38
NC_000003.11:g.4829677C>A , CM000665.1:g.4829677C>A	GRCh37
NC_000003.10:g.4804677C>A	NCBI36
NG_016144.1:g.299646C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6673C>A	ENSP00000306253.9:n.6673C>A
ENST00000354582.12:c.6638C>A	ENSP00000346595.8:p.Pro2213His
ENST00000443694.5:c.6617C>A	ENSP00000401671.2:p.Pro2206His
ENST00000354582.11:c.6638C>A	ENSP00000346595.8:p.Pro2213His
ENST00000357086.10:c.6518C>A	ENSP00000349597.4:p.Pro2173His
ENST00000443694.4:c.6617C>A	ENSP00000401671.2:p.Pro2206His
ENST00000456211.8:c.6473C>A	ENSP00000397885.2:p.Pro2158His
ENST00000481415.2:n.554C>A
ENST00000544951.6:c.997-18110C>A	ENSP00000440564.1:n.997-18110C>A
ENST00000647708.1:c.2561C>A
ENST00000647717.1:n.4166C>A
ENST00000648016.1:c.2997C>A
ENST00000648038.1:c.4424C>A	ENSP00000497872.1:p.Pro1475His
ENST00000648212.1:c.3570C>A
ENST00000648266.1:c.6635C>A	ENSP00000498014.1:p.Pro2212His
ENST00000648309.1:c.6590C>A	ENSP00000497026.1:p.Pro2197His
ENST00000648390.1:c.447-58146C>A
ENST00000648431.1:c.3964C>A
ENST00000648510.1:n.496C>A
ENST00000649015.2:c.6662C>A MANE Select	ENSP00000497605.1:p.Pro2221His
ENST00000649144.1:n.1710C>A
ENST00000649272.1:n.224C>A
ENST00000649694.1:n.4147C>A
ENST00000650294.1:c.6620C>A	ENSP00000498056.1:p.Pro2207His
ENST00000302640.12:c.6617C>A	ENSP00000306253.8:p.Pro2206His
ENST00000354582.10:c.6662C>A	ENSP00000346595.7:p.Pro2221His
ENST00000357086.9:c.6518C>A	ENSP00000349597.4:p.Pro2173His
ENST00000443694.3:c.6617C>A	ENSP00000401671.2:p.Pro2206His
ENST00000456211.7:c.6473C>A	ENSP00000397885.2:p.Pro2158His
ENST00000544951.5:c.997-18110C>A	ENSP00000440564.1:n.997-18110C>A
NM_001099952.2:c.6518C>A	NP_001093422.2:p.Pro2173His
NM_001168272.1:c.6617C>A	NP_001161744.1:p.Pro2206His
NM_002222.5:c.6473C>A	NP_002213.5:p.Pro2158His
XM_005265109.2:c.6593C>A	XP_005265166.1:p.Pro2198His
XM_005265110.2:c.6545C>A	XP_005265167.1:p.Pro2182His
XM_006713131.2:c.6596C>A	XP_006713194.1:p.Pro2199His
XM_011533681.1:c.6665C>A	XP_011531983.1:p.Pro2222His
XM_011533682.1:c.6665C>A	XP_011531984.1:p.Pro2222His
XM_011533683.1:c.6662C>A	XP_011531985.1:p.Pro2221His
XM_011533684.1:c.6638C>A	XP_011531986.1:p.Pro2213His
XM_011533685.1:c.6632C>A	XP_011531987.1:p.Pro2211His
XM_011533686.1:c.6629C>A	XP_011531988.1:p.Pro2210His
XM_011533687.1:c.6620C>A	XP_011531989.1:p.Pro2207His
XM_011533688.1:c.6593C>A	XP_011531990.1:p.Pro2198His
XM_011533689.1:c.6554C>A	XP_011531991.1:p.Pro2185His
XM_011533690.1:c.6665C>A	XP_011531992.1:p.Pro2222His
XM_005265109.3:c.6593C>A	XP_005265166.1:p.Pro2198His
XM_005265110.3:c.6545C>A	XP_005265167.1:p.Pro2182His
XM_006713131.3:c.6596C>A	XP_006713194.1:p.Pro2199His
XM_011533682.3:c.6665C>A	XP_011531984.1:p.Pro2222His
XM_011533683.3:c.6662C>A	XP_011531985.1:p.Pro2221His
XM_011533684.2:c.6638C>A	XP_011531986.1:p.Pro2213His
XM_011533685.2:c.6632C>A	XP_011531987.1:p.Pro2211His
XM_011533686.2:c.6629C>A	XP_011531988.1:p.Pro2210His
XM_011533687.2:c.6620C>A	XP_011531989.1:p.Pro2207His
XM_011533688.2:c.6593C>A	XP_011531990.1:p.Pro2198His
XM_011533690.2:c.6665C>A	XP_011531992.1:p.Pro2222His
XM_017006357.2:c.6662C>A	XP_016861846.1:p.Pro2221His
NM_001099952.3:c.6518C>A	NP_001093422.2:p.Pro2173His
NM_002222.6:c.6473C>A	NP_002213.5:p.Pro2158His
NM_001099952.4:c.6518C>A	NP_001093422.2:p.Pro2173His
NM_001168272.2:c.6617C>A	NP_001161744.1:p.Pro2206His
NM_001378452.1:c.6662C>A MANE Select	NP_001365381.1:p.Pro2221His
NM_002222.7:c.6473C>A	NP_002213.5:p.Pro2158His