Canonical Allele Identifier: CA351638320

Gene: ITPR1

Linked Data

• gnomAD v4: 3-4779591-G-C
• MyVariant Identifiers: chr3:g.4821275G>C (hg19) ; chr3:g.4779591G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4779591G>C , CM000665.2:g.4779591G>C	GRCh38
NC_000003.11:g.4821275G>C , CM000665.1:g.4821275G>C	GRCh37
NC_000003.10:g.4796275G>C	NCBI36
NG_016144.1:g.291244G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6344G>C	ENSP00000306253.9:n.6344G>C
ENST00000354582.12:c.6309G>C	ENSP00000346595.8:p.Arg2103Ser
ENST00000443694.5:c.6288G>C	ENSP00000401671.2:p.Arg2096Ser
ENST00000354582.11:c.6309G>C	ENSP00000346595.8:p.Arg2103Ser
ENST00000357086.10:c.6189G>C	ENSP00000349597.4:p.Arg2063Ser
ENST00000443694.4:c.6288G>C	ENSP00000401671.2:p.Arg2096Ser
ENST00000456211.8:c.6144G>C	ENSP00000397885.2:p.Arg2048Ser
ENST00000544951.6:c.997-26512G>C	ENSP00000440564.1:n.997-26512G>C
ENST00000647708.1:c.2232G>C
ENST00000647717.1:n.3837G>C
ENST00000648016.1:c.2668G>C
ENST00000648038.1:c.4095G>C	ENSP00000497872.1:p.Arg1365Ser
ENST00000648212.1:c.3241G>C
ENST00000648266.1:c.6306G>C	ENSP00000498014.1:p.Arg2102Ser
ENST00000648309.1:c.6261G>C	ENSP00000497026.1:p.Arg2087Ser
ENST00000648390.1:c.447-66548G>C
ENST00000648431.1:c.3635G>C
ENST00000648510.1:n.167G>C
ENST00000649015.2:c.6333G>C MANE Select	ENSP00000497605.1:p.Arg2111Ser
ENST00000649144.1:n.1381G>C
ENST00000649694.1:n.3818G>C
ENST00000650294.1:c.6291G>C	ENSP00000498056.1:p.Arg2097Ser
ENST00000302640.12:c.6288G>C	ENSP00000306253.8:p.Arg2096Ser
ENST00000354582.10:c.6333G>C	ENSP00000346595.7:p.Arg2111Ser
ENST00000357086.9:c.6189G>C	ENSP00000349597.4:p.Arg2063Ser
ENST00000443694.3:c.6288G>C	ENSP00000401671.2:p.Arg2096Ser
ENST00000456211.7:c.6144G>C	ENSP00000397885.2:p.Arg2048Ser
ENST00000544951.5:c.997-26512G>C	ENSP00000440564.1:n.997-26512G>C
NM_001099952.2:c.6189G>C	NP_001093422.2:p.Arg2063Ser
NM_001168272.1:c.6288G>C	NP_001161744.1:p.Arg2096Ser
NM_002222.5:c.6144G>C	NP_002213.5:p.Arg2048Ser
XM_005265109.2:c.6264G>C	XP_005265166.1:p.Arg2088Ser
XM_005265110.2:c.6216G>C	XP_005265167.1:p.Arg2072Ser
XM_006713131.2:c.6267G>C	XP_006713194.1:p.Arg2089Ser
XM_011533681.1:c.6336G>C	XP_011531983.1:p.Arg2112Ser
XM_011533682.1:c.6336G>C	XP_011531984.1:p.Arg2112Ser
XM_011533683.1:c.6333G>C	XP_011531985.1:p.Arg2111Ser
XM_011533684.1:c.6309G>C	XP_011531986.1:p.Arg2103Ser
XM_011533685.1:c.6303G>C	XP_011531987.1:p.Arg2101Ser
XM_011533686.1:c.6300G>C	XP_011531988.1:p.Arg2100Ser
XM_011533687.1:c.6291G>C	XP_011531989.1:p.Arg2097Ser
XM_011533688.1:c.6264G>C	XP_011531990.1:p.Arg2088Ser
XM_011533689.1:c.6225G>C	XP_011531991.1:p.Arg2075Ser
XM_011533690.1:c.6336G>C	XP_011531992.1:p.Arg2112Ser
XM_005265109.3:c.6264G>C	XP_005265166.1:p.Arg2088Ser
XM_005265110.3:c.6216G>C	XP_005265167.1:p.Arg2072Ser
XM_006713131.3:c.6267G>C	XP_006713194.1:p.Arg2089Ser
XM_011533682.3:c.6336G>C	XP_011531984.1:p.Arg2112Ser
XM_011533683.3:c.6333G>C	XP_011531985.1:p.Arg2111Ser
XM_011533684.2:c.6309G>C	XP_011531986.1:p.Arg2103Ser
XM_011533685.2:c.6303G>C	XP_011531987.1:p.Arg2101Ser
XM_011533686.2:c.6300G>C	XP_011531988.1:p.Arg2100Ser
XM_011533687.2:c.6291G>C	XP_011531989.1:p.Arg2097Ser
XM_011533688.2:c.6264G>C	XP_011531990.1:p.Arg2088Ser
XM_011533690.2:c.6336G>C	XP_011531992.1:p.Arg2112Ser
XM_017006357.2:c.6333G>C	XP_016861846.1:p.Arg2111Ser
NM_001099952.3:c.6189G>C	NP_001093422.2:p.Arg2063Ser
NM_002222.6:c.6144G>C	NP_002213.5:p.Arg2048Ser
NM_001099952.4:c.6189G>C	NP_001093422.2:p.Arg2063Ser
NM_001168272.2:c.6288G>C	NP_001161744.1:p.Arg2096Ser
NM_001378452.1:c.6333G>C MANE Select	NP_001365381.1:p.Arg2111Ser
NM_002222.7:c.6144G>C	NP_002213.5:p.Arg2048Ser