Canonical Allele Identifier: CA351640775

Gene: ITPR1

Linked Data

• MyVariant Identifiers: chr3:g.4829778T>G (hg19) ; chr3:g.4788094T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788094T>G , CM000665.2:g.4788094T>G	GRCh38
NC_000003.11:g.4829778T>G , CM000665.1:g.4829778T>G	GRCh37
NC_000003.10:g.4804778T>G	NCBI36
NG_016144.1:g.299747T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6774T>G	ENSP00000306253.9:n.6774T>G
ENST00000354582.12:c.6739T>G	ENSP00000346595.8:p.Ser2247Ala
ENST00000443694.5:c.6718T>G	ENSP00000401671.2:p.Ser2240Ala
ENST00000354582.11:c.6739T>G	ENSP00000346595.8:p.Ser2247Ala
ENST00000357086.10:c.6619T>G	ENSP00000349597.4:p.Ser2207Ala
ENST00000443694.4:c.6718T>G	ENSP00000401671.2:p.Ser2240Ala
ENST00000456211.8:c.6574T>G	ENSP00000397885.2:p.Ser2192Ala
ENST00000481415.2:n.655T>G
ENST00000544951.6:c.997-18009T>G	ENSP00000440564.1:n.997-18009T>G
ENST00000647708.1:c.2662T>G
ENST00000647717.1:n.4267T>G
ENST00000648016.1:c.3098T>G
ENST00000648038.1:c.4525T>G	ENSP00000497872.1:p.Ser1509Ala
ENST00000648212.1:c.3671T>G
ENST00000648266.1:c.6736T>G	ENSP00000498014.1:p.Ser2246Ala
ENST00000648309.1:c.6691T>G	ENSP00000497026.1:p.Ser2231Ala
ENST00000648390.1:c.447-58045T>G
ENST00000648431.1:c.4065T>G
ENST00000648510.1:n.597T>G
ENST00000649015.2:c.6763T>G MANE Select	ENSP00000497605.1:p.Ser2255Ala
ENST00000649144.1:n.1811T>G
ENST00000649272.1:n.325T>G
ENST00000649694.1:n.4248T>G
ENST00000650294.1:c.6721T>G	ENSP00000498056.1:p.Ser2241Ala
ENST00000302640.12:c.6718T>G	ENSP00000306253.8:p.Ser2240Ala
ENST00000354582.10:c.6763T>G	ENSP00000346595.7:p.Ser2255Ala
ENST00000357086.9:c.6619T>G	ENSP00000349597.4:p.Ser2207Ala
ENST00000443694.3:c.6718T>G	ENSP00000401671.2:p.Ser2240Ala
ENST00000456211.7:c.6574T>G	ENSP00000397885.2:p.Ser2192Ala
ENST00000544951.5:c.997-18009T>G	ENSP00000440564.1:n.997-18009T>G
NM_001099952.2:c.6619T>G	NP_001093422.2:p.Ser2207Ala
NM_001168272.1:c.6718T>G	NP_001161744.1:p.Ser2240Ala
NM_002222.5:c.6574T>G	NP_002213.5:p.Ser2192Ala
XM_005265109.2:c.6694T>G	XP_005265166.1:p.Ser2232Ala
XM_005265110.2:c.6646T>G	XP_005265167.1:p.Ser2216Ala
XM_006713131.2:c.6697T>G	XP_006713194.1:p.Ser2233Ala
XM_011533681.1:c.6766T>G	XP_011531983.1:p.Ser2256Ala
XM_011533682.1:c.6766T>G	XP_011531984.1:p.Ser2256Ala
XM_011533683.1:c.6763T>G	XP_011531985.1:p.Ser2255Ala
XM_011533684.1:c.6739T>G	XP_011531986.1:p.Ser2247Ala
XM_011533685.1:c.6733T>G	XP_011531987.1:p.Ser2245Ala
XM_011533686.1:c.6730T>G	XP_011531988.1:p.Ser2244Ala
XM_011533687.1:c.6721T>G	XP_011531989.1:p.Ser2241Ala
XM_011533688.1:c.6694T>G	XP_011531990.1:p.Ser2232Ala
XM_011533689.1:c.6655T>G	XP_011531991.1:p.Ser2219Ala
XM_011533690.1:c.6766T>G	XP_011531992.1:p.Ser2256Ala
XM_005265109.3:c.6694T>G	XP_005265166.1:p.Ser2232Ala
XM_005265110.3:c.6646T>G	XP_005265167.1:p.Ser2216Ala
XM_006713131.3:c.6697T>G	XP_006713194.1:p.Ser2233Ala
XM_011533682.3:c.6766T>G	XP_011531984.1:p.Ser2256Ala
XM_011533683.3:c.6763T>G	XP_011531985.1:p.Ser2255Ala
XM_011533684.2:c.6739T>G	XP_011531986.1:p.Ser2247Ala
XM_011533685.2:c.6733T>G	XP_011531987.1:p.Ser2245Ala
XM_011533686.2:c.6730T>G	XP_011531988.1:p.Ser2244Ala
XM_011533687.2:c.6721T>G	XP_011531989.1:p.Ser2241Ala
XM_011533688.2:c.6694T>G	XP_011531990.1:p.Ser2232Ala
XM_011533690.2:c.6766T>G	XP_011531992.1:p.Ser2256Ala
XM_017006357.2:c.6763T>G	XP_016861846.1:p.Ser2255Ala
NM_001099952.3:c.6619T>G	NP_001093422.2:p.Ser2207Ala
NM_002222.6:c.6574T>G	NP_002213.5:p.Ser2192Ala
NM_001099952.4:c.6619T>G	NP_001093422.2:p.Ser2207Ala
NM_001168272.2:c.6718T>G	NP_001161744.1:p.Ser2240Ala
NM_001378452.1:c.6763T>G MANE Select	NP_001365381.1:p.Ser2255Ala
NM_002222.7:c.6574T>G	NP_002213.5:p.Ser2192Ala