Canonical Allele Identifier: CA2231416

Gene: ITPR1

Linked Data

• ClinVar Variation Id: 345715
• ClinVar RCV Id: RCV000286727 ; RCV000956066 ; RCV001288220
• dbSNP Id: rs35946460
• ExAC: 3:4715054 G / A
• gnomAD v2: 3-4715054-G-A
• gnomAD v3: 3-4673370-G-A
• gnomAD v4: 3-4673370-G-A
• MyVariant Identifiers: chr3:g.4715054G>A (hg19) ; chr3:g.4673370G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4673370G>A , CM000665.2:g.4673370G>A	GRCh38
NC_000003.11:g.4715054G>A , CM000665.1:g.4715054G>A	GRCh37
NC_000003.10:g.4690054G>A	NCBI36
NG_016144.1:g.185023G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000302640.13:c.2439G>A	ENSP00000306253.9:p.Ser813=
ENST00000354582.12:c.2439G>A	ENSP00000346595.8:p.Ser813=
ENST00000443694.5:c.2394G>A	ENSP00000401671.2:p.Ser798=
ENST00000354582.11:c.2439G>A	ENSP00000346595.8:p.Ser813=
ENST00000357086.10:c.2439G>A	ENSP00000349597.4:p.Ser813=
ENST00000443694.4:c.2394G>A	ENSP00000401671.2:p.Ser798=
ENST00000456211.8:c.2394G>A	ENSP00000397885.2:p.Ser798=
ENST00000477577.2:n.2556G>A
ENST00000544951.6:c.996+19484G>A	ENSP00000440564.1:n.996+19484G>A
ENST00000648038.1:c.276G>A	ENSP00000497872.1:p.Ser92=
ENST00000648266.1:c.2439G>A	ENSP00000498014.1:p.Ser813=
ENST00000648309.1:c.2394G>A	ENSP00000497026.1:p.Ser798=
ENST00000649015.2:c.2439G>A MANE Select	ENSP00000497605.1:p.Ser813=
ENST00000650146.1:c.77G>A
ENST00000650294.1:c.2394G>A	ENSP00000498056.1:p.Ser798=
ENST00000302640.12:c.2394G>A	ENSP00000306253.8:p.Ser798=
ENST00000354582.10:c.2439G>A	ENSP00000346595.7:p.Ser813=
ENST00000357086.9:c.2439G>A	ENSP00000349597.4:p.Ser813=
ENST00000443694.3:c.2394G>A	ENSP00000401671.2:p.Ser798=
ENST00000456211.7:c.2394G>A	ENSP00000397885.2:p.Ser798=
ENST00000544951.5:c.996+19484G>A	ENSP00000440564.1:n.996+19484G>A
NM_001099952.2:c.2439G>A	NP_001093422.2:p.Ser813=
NM_001168272.1:c.2394G>A	NP_001161744.1:p.Ser798=
NM_002222.5:c.2394G>A	NP_002213.5:p.Ser798=
XM_005265109.2:c.2439G>A	XP_005265166.1:p.Ser813=
XM_005265110.2:c.2439G>A	XP_005265167.1:p.Ser813=
XM_006713131.2:c.2439G>A	XP_006713194.1:p.Ser813=
XM_011533681.1:c.2439G>A	XP_011531983.1:p.Ser813=
XM_011533682.1:c.2439G>A	XP_011531984.1:p.Ser813=
XM_011533683.1:c.2439G>A	XP_011531985.1:p.Ser813=
XM_011533684.1:c.2439G>A	XP_011531986.1:p.Ser813=
XM_011533685.1:c.2439G>A	XP_011531987.1:p.Ser813=
XM_011533686.1:c.2439G>A	XP_011531988.1:p.Ser813=
XM_011533687.1:c.2394G>A	XP_011531989.1:p.Ser798=
XM_011533688.1:c.2394G>A	XP_011531990.1:p.Ser798=
XM_011533689.1:c.2439G>A	XP_011531991.1:p.Ser813=
XM_011533690.1:c.2439G>A	XP_011531992.1:p.Ser813=
XM_011533691.1:c.2439G>A	XP_011531993.1:p.Ser813=
XM_011533692.1:c.2439G>A	XP_011531994.1:p.Ser813=
XM_005265109.3:c.2439G>A	XP_005265166.1:p.Ser813=
XM_005265110.3:c.2439G>A	XP_005265167.1:p.Ser813=
XM_006713131.3:c.2439G>A	XP_006713194.1:p.Ser813=
XM_011533682.3:c.2439G>A	XP_011531984.1:p.Ser813=
XM_011533683.3:c.2439G>A	XP_011531985.1:p.Ser813=
XM_011533684.2:c.2439G>A	XP_011531986.1:p.Ser813=
XM_011533685.2:c.2439G>A	XP_011531987.1:p.Ser813=
XM_011533686.2:c.2439G>A	XP_011531988.1:p.Ser813=
XM_011533687.2:c.2394G>A	XP_011531989.1:p.Ser798=
XM_011533688.2:c.2394G>A	XP_011531990.1:p.Ser798=
XM_011533690.2:c.2439G>A	XP_011531992.1:p.Ser813=
XM_011533692.2:c.2439G>A	XP_011531994.1:p.Ser813=
XM_017006357.2:c.2439G>A	XP_016861846.1:p.Ser813=
XM_017006358.1:c.2439G>A	XP_016861847.1:p.Ser813=
NM_001099952.3:c.2439G>A	NP_001093422.2:p.Ser813=
NM_002222.6:c.2394G>A	NP_002213.5:p.Ser798=
NM_001099952.4:c.2439G>A	NP_001093422.2:p.Ser813=
NM_001168272.2:c.2394G>A	NP_001161744.1:p.Ser798=
NM_001378452.1:c.2439G>A MANE Select	NP_001365381.1:p.Ser813=
NM_002222.7:c.2394G>A	NP_002213.5:p.Ser798=