Canonical Allele Identifier: CA351638330

Gene: ITPR1

Linked Data

• ClinVar Variation Id: 2637458
• ClinVar RCV Id: RCV003404756 ; RCV003669418
• gnomAD v4: 3-4779595-G-A
• MyVariant Identifiers: chr3:g.4821279G>A (hg19) ; chr3:g.4779595G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4779595G>A , CM000665.2:g.4779595G>A	GRCh38
NC_000003.11:g.4821279G>A , CM000665.1:g.4821279G>A	GRCh37
NC_000003.10:g.4796279G>A	NCBI36
NG_016144.1:g.291248G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6348G>A	ENSP00000306253.9:n.6348G>A
ENST00000354582.12:c.6313G>A	ENSP00000346595.8:p.Asp2105Asn
ENST00000443694.5:c.6292G>A	ENSP00000401671.2:p.Asp2098Asn
ENST00000354582.11:c.6313G>A	ENSP00000346595.8:p.Asp2105Asn
ENST00000357086.10:c.6193G>A	ENSP00000349597.4:p.Asp2065Asn
ENST00000443694.4:c.6292G>A	ENSP00000401671.2:p.Asp2098Asn
ENST00000456211.8:c.6148G>A	ENSP00000397885.2:p.Asp2050Asn
ENST00000544951.6:c.997-26508G>A	ENSP00000440564.1:n.997-26508G>A
ENST00000647708.1:c.2236G>A
ENST00000647717.1:n.3841G>A
ENST00000648016.1:c.2672G>A
ENST00000648038.1:c.4099G>A	ENSP00000497872.1:p.Asp1367Asn
ENST00000648212.1:c.3245G>A
ENST00000648266.1:c.6310G>A	ENSP00000498014.1:p.Asp2104Asn
ENST00000648309.1:c.6265G>A	ENSP00000497026.1:p.Asp2089Asn
ENST00000648390.1:c.447-66544G>A
ENST00000648431.1:c.3639G>A
ENST00000648510.1:n.171G>A
ENST00000649015.2:c.6337G>A MANE Select	ENSP00000497605.1:p.Asp2113Asn
ENST00000649144.1:n.1385G>A
ENST00000649694.1:n.3822G>A
ENST00000650294.1:c.6295G>A	ENSP00000498056.1:p.Asp2099Asn
ENST00000302640.12:c.6292G>A	ENSP00000306253.8:p.Asp2098Asn
ENST00000354582.10:c.6337G>A	ENSP00000346595.7:p.Asp2113Asn
ENST00000357086.9:c.6193G>A	ENSP00000349597.4:p.Asp2065Asn
ENST00000443694.3:c.6292G>A	ENSP00000401671.2:p.Asp2098Asn
ENST00000456211.7:c.6148G>A	ENSP00000397885.2:p.Asp2050Asn
ENST00000544951.5:c.997-26508G>A	ENSP00000440564.1:n.997-26508G>A
NM_001099952.2:c.6193G>A	NP_001093422.2:p.Asp2065Asn
NM_001168272.1:c.6292G>A	NP_001161744.1:p.Asp2098Asn
NM_002222.5:c.6148G>A	NP_002213.5:p.Asp2050Asn
XM_005265109.2:c.6268G>A	XP_005265166.1:p.Asp2090Asn
XM_005265110.2:c.6220G>A	XP_005265167.1:p.Asp2074Asn
XM_006713131.2:c.6271G>A	XP_006713194.1:p.Asp2091Asn
XM_011533681.1:c.6340G>A	XP_011531983.1:p.Asp2114Asn
XM_011533682.1:c.6340G>A	XP_011531984.1:p.Asp2114Asn
XM_011533683.1:c.6337G>A	XP_011531985.1:p.Asp2113Asn
XM_011533684.1:c.6313G>A	XP_011531986.1:p.Asp2105Asn
XM_011533685.1:c.6307G>A	XP_011531987.1:p.Asp2103Asn
XM_011533686.1:c.6304G>A	XP_011531988.1:p.Asp2102Asn
XM_011533687.1:c.6295G>A	XP_011531989.1:p.Asp2099Asn
XM_011533688.1:c.6268G>A	XP_011531990.1:p.Asp2090Asn
XM_011533689.1:c.6229G>A	XP_011531991.1:p.Asp2077Asn
XM_011533690.1:c.6340G>A	XP_011531992.1:p.Asp2114Asn
XM_005265109.3:c.6268G>A	XP_005265166.1:p.Asp2090Asn
XM_005265110.3:c.6220G>A	XP_005265167.1:p.Asp2074Asn
XM_006713131.3:c.6271G>A	XP_006713194.1:p.Asp2091Asn
XM_011533682.3:c.6340G>A	XP_011531984.1:p.Asp2114Asn
XM_011533683.3:c.6337G>A	XP_011531985.1:p.Asp2113Asn
XM_011533684.2:c.6313G>A	XP_011531986.1:p.Asp2105Asn
XM_011533685.2:c.6307G>A	XP_011531987.1:p.Asp2103Asn
XM_011533686.2:c.6304G>A	XP_011531988.1:p.Asp2102Asn
XM_011533687.2:c.6295G>A	XP_011531989.1:p.Asp2099Asn
XM_011533688.2:c.6268G>A	XP_011531990.1:p.Asp2090Asn
XM_011533690.2:c.6340G>A	XP_011531992.1:p.Asp2114Asn
XM_017006357.2:c.6337G>A	XP_016861846.1:p.Asp2113Asn
NM_001099952.3:c.6193G>A	NP_001093422.2:p.Asp2065Asn
NM_002222.6:c.6148G>A	NP_002213.5:p.Asp2050Asn
NM_001099952.4:c.6193G>A	NP_001093422.2:p.Asp2065Asn
NM_001168272.2:c.6292G>A	NP_001161744.1:p.Asp2098Asn
NM_001378452.1:c.6337G>A MANE Select	NP_001365381.1:p.Asp2113Asn
NM_002222.7:c.6148G>A	NP_002213.5:p.Asp2050Asn