Canonical Allele Identifier: CA16617972

Gene: ITPR1

Linked Data

• ClinVar Variation Id: 423129
• ClinVar RCV Id: RCV000485001 ; RCV001265802
• dbSNP Id: rs1064796252
• MyVariant Identifiers: chr3:g.4709160C>T (hg19) ; chr3:g.4667476C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4667476C>T , CM000665.2:g.4667476C>T	GRCh38
NC_000003.11:g.4709160C>T , CM000665.1:g.4709160C>T	GRCh37
NC_000003.10:g.4684160C>T	NCBI36
NG_016144.1:g.179129C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.1813C>T	ENSP00000306253.9:p.Leu605Phe
ENST00000354582.12:c.1813C>T	ENSP00000346595.8:p.Leu605Phe
ENST00000443694.5:c.1768C>T	ENSP00000401671.2:p.Leu590Phe
ENST00000354582.11:c.1813C>T	ENSP00000346595.8:p.Leu605Phe
ENST00000357086.10:c.1813C>T	ENSP00000349597.4:p.Leu605Phe
ENST00000443694.4:c.1768C>T	ENSP00000401671.2:p.Leu590Phe
ENST00000456211.8:c.1768C>T	ENSP00000397885.2:p.Leu590Phe
ENST00000477577.2:n.1930C>T
ENST00000544951.6:c.996+13590C>T	ENSP00000440564.1:n.996+13590C>T
ENST00000648266.1:c.1813C>T	ENSP00000498014.1:p.Leu605Phe
ENST00000648309.1:c.1768C>T	ENSP00000497026.1:p.Leu590Phe
ENST00000649015.2:c.1813C>T MANE Select	ENSP00000497605.1:p.Leu605Phe
ENST00000649051.1:c.1489C>T	ENSP00000497851.1:p.Leu497Phe
ENST00000650294.1:c.1768C>T	ENSP00000498056.1:p.Leu590Phe
ENST00000302640.12:c.1768C>T	ENSP00000306253.8:p.Leu590Phe
ENST00000354582.10:c.1813C>T	ENSP00000346595.7:p.Leu605Phe
ENST00000357086.9:c.1813C>T	ENSP00000349597.4:p.Leu605Phe
ENST00000443694.3:c.1768C>T	ENSP00000401671.2:p.Leu590Phe
ENST00000456211.7:c.1768C>T	ENSP00000397885.2:p.Leu590Phe
ENST00000477577.1:n.1498C>T
ENST00000544951.5:c.996+13590C>T	ENSP00000440564.1:n.996+13590C>T
NM_001099952.2:c.1813C>T	NP_001093422.2:p.Leu605Phe
NM_001168272.1:c.1768C>T	NP_001161744.1:p.Leu590Phe
NM_002222.5:c.1768C>T	NP_002213.5:p.Leu590Phe
XM_005265109.2:c.1813C>T	XP_005265166.1:p.Leu605Phe
XM_005265110.2:c.1813C>T	XP_005265167.1:p.Leu605Phe
XM_006713131.2:c.1813C>T	XP_006713194.1:p.Leu605Phe
XM_011533681.1:c.1813C>T	XP_011531983.1:p.Leu605Phe
XM_011533682.1:c.1813C>T	XP_011531984.1:p.Leu605Phe
XM_011533683.1:c.1813C>T	XP_011531985.1:p.Leu605Phe
XM_011533684.1:c.1813C>T	XP_011531986.1:p.Leu605Phe
XM_011533685.1:c.1813C>T	XP_011531987.1:p.Leu605Phe
XM_011533686.1:c.1813C>T	XP_011531988.1:p.Leu605Phe
XM_011533687.1:c.1768C>T	XP_011531989.1:p.Leu590Phe
XM_011533688.1:c.1768C>T	XP_011531990.1:p.Leu590Phe
XM_011533689.1:c.1813C>T	XP_011531991.1:p.Leu605Phe
XM_011533690.1:c.1813C>T	XP_011531992.1:p.Leu605Phe
XM_011533691.1:c.1813C>T	XP_011531993.1:p.Leu605Phe
XM_011533692.1:c.1813C>T	XP_011531994.1:p.Leu605Phe
XM_005265109.3:c.1813C>T	XP_005265166.1:p.Leu605Phe
XM_005265110.3:c.1813C>T	XP_005265167.1:p.Leu605Phe
XM_006713131.3:c.1813C>T	XP_006713194.1:p.Leu605Phe
XM_011533682.3:c.1813C>T	XP_011531984.1:p.Leu605Phe
XM_011533683.3:c.1813C>T	XP_011531985.1:p.Leu605Phe
XM_011533684.2:c.1813C>T	XP_011531986.1:p.Leu605Phe
XM_011533685.2:c.1813C>T	XP_011531987.1:p.Leu605Phe
XM_011533686.2:c.1813C>T	XP_011531988.1:p.Leu605Phe
XM_011533687.2:c.1768C>T	XP_011531989.1:p.Leu590Phe
XM_011533688.2:c.1768C>T	XP_011531990.1:p.Leu590Phe
XM_011533690.2:c.1813C>T	XP_011531992.1:p.Leu605Phe
XM_011533692.2:c.1813C>T	XP_011531994.1:p.Leu605Phe
XM_017006357.2:c.1813C>T	XP_016861846.1:p.Leu605Phe
XM_017006358.1:c.1813C>T	XP_016861847.1:p.Leu605Phe
NM_001099952.3:c.1813C>T	NP_001093422.2:p.Leu605Phe
NM_002222.6:c.1768C>T	NP_002213.5:p.Leu590Phe
NM_001099952.4:c.1813C>T	NP_001093422.2:p.Leu605Phe
NM_001168272.2:c.1768C>T	NP_001161744.1:p.Leu590Phe
NM_001378452.1:c.1813C>T MANE Select	NP_001365381.1:p.Leu605Phe
NM_002222.7:c.1768C>T	NP_002213.5:p.Leu590Phe