Canonical Allele Identifier: CA68819513

Gene: ITPR1

Linked Data

• ClinVar Variation Id: 1182640
• ClinVar RCV Id: RCV001540319
• dbSNP Id: rs7653732
• gnomAD v2: 3-4821181-C-A
• gnomAD v3: 3-4779497-C-A
• gnomAD v4: 3-4779497-C-A
• MyVariant Identifiers: chr3:g.4821181C>A (hg19) ; chr3:g.4779497C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4779497C>A , CM000665.2:g.4779497C>A	GRCh38
NC_000003.11:g.4821181C>A , CM000665.1:g.4821181C>A	GRCh37
NC_000003.10:g.4796181C>A	NCBI36
NG_016144.1:g.291150C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000302640.13:c.6303-53C>A	ENSP00000306253.9:n.6303-53C>A
ENST00000354582.12:c.6268-53C>A	ENSP00000346595.8:n.6268-53C>A
ENST00000443694.5:c.6247-53C>A	ENSP00000401671.2:n.6247-53C>A
ENST00000354582.11:c.6268-53C>A	ENSP00000346595.8:n.6268-53C>A
ENST00000357086.10:c.6148-53C>A	ENSP00000349597.4:n.6148-53C>A
ENST00000443694.4:c.6247-53C>A	ENSP00000401671.2:n.6247-53C>A
ENST00000456211.8:c.6103-53C>A	ENSP00000397885.2:n.6103-53C>A
ENST00000544951.6:c.997-26606C>A	ENSP00000440564.1:n.997-26606C>A
ENST00000647708.1:c.2191-53C>A
ENST00000647717.1:n.3796-53C>A
ENST00000648016.1:c.2627-53C>A
ENST00000648038.1:c.4054-53C>A	ENSP00000497872.1:n.4054-53C>A
ENST00000648212.1:c.3200-53C>A
ENST00000648266.1:c.6265-53C>A	ENSP00000498014.1:n.6265-53C>A
ENST00000648309.1:c.6220-53C>A	ENSP00000497026.1:n.6220-53C>A
ENST00000648390.1:c.447-66642C>A
ENST00000648431.1:c.3594-53C>A
ENST00000648510.1:n.126-53C>A
ENST00000649015.2:c.6292-53C>A MANE Select	ENSP00000497605.1:n.6292-53C>A
ENST00000649144.1:n.1340-53C>A
ENST00000649694.1:n.3777-53C>A
ENST00000650294.1:c.6250-53C>A	ENSP00000498056.1:n.6250-53C>A
ENST00000302640.12:c.6247-53C>A	ENSP00000306253.8:n.6247-53C>A
ENST00000354582.10:c.6292-53C>A	ENSP00000346595.7:n.6292-53C>A
ENST00000357086.9:c.6148-53C>A	ENSP00000349597.4:n.6148-53C>A
ENST00000443694.3:c.6247-53C>A	ENSP00000401671.2:n.6247-53C>A
ENST00000456211.7:c.6103-53C>A	ENSP00000397885.2:n.6103-53C>A
ENST00000544951.5:c.997-26606C>A	ENSP00000440564.1:n.997-26606C>A
NM_001099952.2:c.6148-53C>A	NP_001093422.2:n.6148-53C>A
NM_001168272.1:c.6247-53C>A	NP_001161744.1:n.6247-53C>A
NM_002222.5:c.6103-53C>A	NP_002213.5:n.6103-53C>A
XM_005265109.2:c.6223-53C>A	XP_005265166.1:n.6223-53C>A
XM_005265110.2:c.6175-53C>A	XP_005265167.1:n.6175-53C>A
XM_006713131.2:c.6226-53C>A	XP_006713194.1:n.6226-53C>A
XM_011533681.1:c.6295-53C>A	XP_011531983.1:n.6295-53C>A
XM_011533682.1:c.6295-53C>A	XP_011531984.1:n.6295-53C>A
XM_011533683.1:c.6292-53C>A	XP_011531985.1:n.6292-53C>A
XM_011533684.1:c.6268-53C>A	XP_011531986.1:n.6268-53C>A
XM_011533685.1:c.6262-53C>A	XP_011531987.1:n.6262-53C>A
XM_011533686.1:c.6259-53C>A	XP_011531988.1:n.6259-53C>A
XM_011533687.1:c.6250-53C>A	XP_011531989.1:n.6250-53C>A
XM_011533688.1:c.6223-53C>A	XP_011531990.1:n.6223-53C>A
XM_011533689.1:c.6184-53C>A	XP_011531991.1:n.6184-53C>A
XM_011533690.1:c.6295-53C>A	XP_011531992.1:n.6295-53C>A
XM_005265109.3:c.6223-53C>A	XP_005265166.1:n.6223-53C>A
XM_005265110.3:c.6175-53C>A	XP_005265167.1:n.6175-53C>A
XM_006713131.3:c.6226-53C>A	XP_006713194.1:n.6226-53C>A
XM_011533682.3:c.6295-53C>A	XP_011531984.1:n.6295-53C>A
XM_011533683.3:c.6292-53C>A	XP_011531985.1:n.6292-53C>A
XM_011533684.2:c.6268-53C>A	XP_011531986.1:n.6268-53C>A
XM_011533685.2:c.6262-53C>A	XP_011531987.1:n.6262-53C>A
XM_011533686.2:c.6259-53C>A	XP_011531988.1:n.6259-53C>A
XM_011533687.2:c.6250-53C>A	XP_011531989.1:n.6250-53C>A
XM_011533688.2:c.6223-53C>A	XP_011531990.1:n.6223-53C>A
XM_011533690.2:c.6295-53C>A	XP_011531992.1:n.6295-53C>A
XM_017006357.2:c.6292-53C>A	XP_016861846.1:n.6292-53C>A
NM_001099952.3:c.6148-53C>A	NP_001093422.2:n.6148-53C>A
NM_002222.6:c.6103-53C>A	NP_002213.5:n.6103-53C>A
NM_001099952.4:c.6148-53C>A	NP_001093422.2:n.6148-53C>A
NM_001168272.2:c.6247-53C>A	NP_001161744.1:n.6247-53C>A
NM_001378452.1:c.6292-53C>A MANE Select	NP_001365381.1:n.6292-53C>A
NM_002222.7:c.6103-53C>A	NP_002213.5:n.6103-53C>A