Canonical Allele Identifier: CA351640646

Gene: ITPR1

Linked Data

• MyVariant Identifiers: chr3:g.4829733G>A (hg19) ; chr3:g.4788049G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788049G>A , CM000665.2:g.4788049G>A	GRCh38
NC_000003.11:g.4829733G>A , CM000665.1:g.4829733G>A	GRCh37
NC_000003.10:g.4804733G>A	NCBI36
NG_016144.1:g.299702G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000302640.13:c.6729G>A	ENSP00000306253.9:n.6729G>A
ENST00000354582.12:c.6694G>A	ENSP00000346595.8:p.Glu2232Lys
ENST00000443694.5:c.6673G>A	ENSP00000401671.2:p.Glu2225Lys
ENST00000354582.11:c.6694G>A	ENSP00000346595.8:p.Glu2232Lys
ENST00000357086.10:c.6574G>A	ENSP00000349597.4:p.Glu2192Lys
ENST00000443694.4:c.6673G>A	ENSP00000401671.2:p.Glu2225Lys
ENST00000456211.8:c.6529G>A	ENSP00000397885.2:p.Glu2177Lys
ENST00000481415.2:n.610G>A
ENST00000544951.6:c.997-18054G>A	ENSP00000440564.1:n.997-18054G>A
ENST00000647708.1:c.2617G>A
ENST00000647717.1:n.4222G>A
ENST00000648016.1:c.3053G>A
ENST00000648038.1:c.4480G>A	ENSP00000497872.1:p.Glu1494Lys
ENST00000648212.1:c.3626G>A
ENST00000648266.1:c.6691G>A	ENSP00000498014.1:p.Glu2231Lys
ENST00000648309.1:c.6646G>A	ENSP00000497026.1:p.Glu2216Lys
ENST00000648390.1:c.447-58090G>A
ENST00000648431.1:c.4020G>A
ENST00000648510.1:n.552G>A
ENST00000649015.2:c.6718G>A MANE Select	ENSP00000497605.1:p.Glu2240Lys
ENST00000649144.1:n.1766G>A
ENST00000649272.1:n.280G>A
ENST00000649694.1:n.4203G>A
ENST00000650294.1:c.6676G>A	ENSP00000498056.1:p.Glu2226Lys
ENST00000302640.12:c.6673G>A	ENSP00000306253.8:p.Glu2225Lys
ENST00000354582.10:c.6718G>A	ENSP00000346595.7:p.Glu2240Lys
ENST00000357086.9:c.6574G>A	ENSP00000349597.4:p.Glu2192Lys
ENST00000443694.3:c.6673G>A	ENSP00000401671.2:p.Glu2225Lys
ENST00000456211.7:c.6529G>A	ENSP00000397885.2:p.Glu2177Lys
ENST00000544951.5:c.997-18054G>A	ENSP00000440564.1:n.997-18054G>A
NM_001099952.2:c.6574G>A	NP_001093422.2:p.Glu2192Lys
NM_001168272.1:c.6673G>A	NP_001161744.1:p.Glu2225Lys
NM_002222.5:c.6529G>A	NP_002213.5:p.Glu2177Lys
XM_005265109.2:c.6649G>A	XP_005265166.1:p.Glu2217Lys
XM_005265110.2:c.6601G>A	XP_005265167.1:p.Glu2201Lys
XM_006713131.2:c.6652G>A	XP_006713194.1:p.Glu2218Lys
XM_011533681.1:c.6721G>A	XP_011531983.1:p.Glu2241Lys
XM_011533682.1:c.6721G>A	XP_011531984.1:p.Glu2241Lys
XM_011533683.1:c.6718G>A	XP_011531985.1:p.Glu2240Lys
XM_011533684.1:c.6694G>A	XP_011531986.1:p.Glu2232Lys
XM_011533685.1:c.6688G>A	XP_011531987.1:p.Glu2230Lys
XM_011533686.1:c.6685G>A	XP_011531988.1:p.Glu2229Lys
XM_011533687.1:c.6676G>A	XP_011531989.1:p.Glu2226Lys
XM_011533688.1:c.6649G>A	XP_011531990.1:p.Glu2217Lys
XM_011533689.1:c.6610G>A	XP_011531991.1:p.Glu2204Lys
XM_011533690.1:c.6721G>A	XP_011531992.1:p.Glu2241Lys
XM_005265109.3:c.6649G>A	XP_005265166.1:p.Glu2217Lys
XM_005265110.3:c.6601G>A	XP_005265167.1:p.Glu2201Lys
XM_006713131.3:c.6652G>A	XP_006713194.1:p.Glu2218Lys
XM_011533682.3:c.6721G>A	XP_011531984.1:p.Glu2241Lys
XM_011533683.3:c.6718G>A	XP_011531985.1:p.Glu2240Lys
XM_011533684.2:c.6694G>A	XP_011531986.1:p.Glu2232Lys
XM_011533685.2:c.6688G>A	XP_011531987.1:p.Glu2230Lys
XM_011533686.2:c.6685G>A	XP_011531988.1:p.Glu2229Lys
XM_011533687.2:c.6676G>A	XP_011531989.1:p.Glu2226Lys
XM_011533688.2:c.6649G>A	XP_011531990.1:p.Glu2217Lys
XM_011533690.2:c.6721G>A	XP_011531992.1:p.Glu2241Lys
XM_017006357.2:c.6718G>A	XP_016861846.1:p.Glu2240Lys
NM_001099952.3:c.6574G>A	NP_001093422.2:p.Glu2192Lys
NM_002222.6:c.6529G>A	NP_002213.5:p.Glu2177Lys
NM_001099952.4:c.6574G>A	NP_001093422.2:p.Glu2192Lys
NM_001168272.2:c.6673G>A	NP_001161744.1:p.Glu2225Lys
NM_001378452.1:c.6718G>A MANE Select	NP_001365381.1:p.Glu2240Lys
NM_002222.7:c.6529G>A	NP_002213.5:p.Glu2177Lys