Canonical Allele Identifier: CA432322604

Gene: ITPR1

Linked Data

• gnomAD v4: 3-4787991-G-T
• MyVariant Identifiers: chr3:g.4829675G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4787991G>T , CM000665.2:g.4787991G>T	GRCh38
NC_000003.11:g.4829675G>T , CM000665.1:g.4829675G>T	GRCh37
NC_000003.10:g.4804675G>T	NCBI36
NG_016144.1:g.299644G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6671G>T	ENSP00000306253.9:n.6671G>T
ENST00000354582.12:c.6636G>T	ENSP00000346595.8:p.Val2212=
ENST00000443694.5:c.6615G>T	ENSP00000401671.2:p.Val2205=
ENST00000354582.11:c.6636G>T	ENSP00000346595.8:p.Val2212=
ENST00000357086.10:c.6516G>T	ENSP00000349597.4:p.Val2172=
ENST00000443694.4:c.6615G>T	ENSP00000401671.2:p.Val2205=
ENST00000456211.8:c.6471G>T	ENSP00000397885.2:p.Val2157=
ENST00000481415.2:n.552G>T
ENST00000544951.6:c.997-18112G>T	ENSP00000440564.1:n.997-18112G>T
ENST00000647708.1:c.2559G>T
ENST00000647717.1:n.4164G>T
ENST00000648016.1:c.2995G>T
ENST00000648038.1:c.4422G>T	ENSP00000497872.1:p.Val1474=
ENST00000648212.1:c.3568G>T
ENST00000648266.1:c.6633G>T	ENSP00000498014.1:p.Val2211=
ENST00000648309.1:c.6588G>T	ENSP00000497026.1:p.Val2196=
ENST00000648390.1:c.447-58148G>T
ENST00000648431.1:c.3962G>T
ENST00000648510.1:n.494G>T
ENST00000649015.2:c.6660G>T MANE Select	ENSP00000497605.1:p.Val2220=
ENST00000649144.1:n.1708G>T
ENST00000649272.1:n.222G>T
ENST00000649694.1:n.4145G>T
ENST00000650294.1:c.6618G>T	ENSP00000498056.1:p.Val2206=
ENST00000302640.12:c.6615G>T	ENSP00000306253.8:p.Val2205=
ENST00000354582.10:c.6660G>T	ENSP00000346595.7:p.Val2220=
ENST00000357086.9:c.6516G>T	ENSP00000349597.4:p.Val2172=
ENST00000443694.3:c.6615G>T	ENSP00000401671.2:p.Val2205=
ENST00000456211.7:c.6471G>T	ENSP00000397885.2:p.Val2157=
ENST00000481415.1:n.552G>T
ENST00000544951.5:c.997-18112G>T	ENSP00000440564.1:n.997-18112G>T
NM_001099952.2:c.6516G>T	NP_001093422.2:p.Val2172=
NM_001168272.1:c.6615G>T	NP_001161744.1:p.Val2205=
NM_002222.5:c.6471G>T	NP_002213.5:p.Val2157=
XM_005265109.2:c.6591G>T	XP_005265166.1:p.Val2197=
XM_005265110.2:c.6543G>T	XP_005265167.1:p.Val2181=
XM_006713131.2:c.6594G>T	XP_006713194.1:p.Val2198=
XM_011533681.1:c.6663G>T	XP_011531983.1:p.Val2221=
XM_011533682.1:c.6663G>T	XP_011531984.1:p.Val2221=
XM_011533683.1:c.6660G>T	XP_011531985.1:p.Val2220=
XM_011533684.1:c.6636G>T	XP_011531986.1:p.Val2212=
XM_011533685.1:c.6630G>T	XP_011531987.1:p.Val2210=
XM_011533686.1:c.6627G>T	XP_011531988.1:p.Val2209=
XM_011533687.1:c.6618G>T	XP_011531989.1:p.Val2206=
XM_011533688.1:c.6591G>T	XP_011531990.1:p.Val2197=
XM_011533689.1:c.6552G>T	XP_011531991.1:p.Val2184=
XM_011533690.1:c.6663G>T	XP_011531992.1:p.Val2221=
XM_005265109.3:c.6591G>T	XP_005265166.1:p.Val2197=
XM_005265110.3:c.6543G>T	XP_005265167.1:p.Val2181=
XM_006713131.3:c.6594G>T	XP_006713194.1:p.Val2198=
XM_011533682.3:c.6663G>T	XP_011531984.1:p.Val2221=
XM_011533683.3:c.6660G>T	XP_011531985.1:p.Val2220=
XM_011533684.2:c.6636G>T	XP_011531986.1:p.Val2212=
XM_011533685.2:c.6630G>T	XP_011531987.1:p.Val2210=
XM_011533686.2:c.6627G>T	XP_011531988.1:p.Val2209=
XM_011533687.2:c.6618G>T	XP_011531989.1:p.Val2206=
XM_011533688.2:c.6591G>T	XP_011531990.1:p.Val2197=
XM_011533690.2:c.6663G>T	XP_011531992.1:p.Val2221=
XM_017006357.2:c.6660G>T	XP_016861846.1:p.Val2220=
NM_001099952.3:c.6516G>T	NP_001093422.2:p.Val2172=
NM_002222.6:c.6471G>T	NP_002213.5:p.Val2157=
NM_001099952.4:c.6516G>T	NP_001093422.2:p.Val2172=
NM_001168272.2:c.6615G>T	NP_001161744.1:p.Val2205=
NM_001378452.1:c.6660G>T MANE Select	NP_001365381.1:p.Val2220=
NM_002222.7:c.6471G>T	NP_002213.5:p.Val2157=