Canonical Allele Identifier: CA351640471

Gene: ITPR1

Linked Data

• MyVariant Identifiers: chr3:g.4829654G>C (hg19) ; chr3:g.4787970G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4787970G>C , CM000665.2:g.4787970G>C	GRCh38
NC_000003.11:g.4829654G>C , CM000665.1:g.4829654G>C	GRCh37
NC_000003.10:g.4804654G>C	NCBI36
NG_016144.1:g.299623G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6650G>C	ENSP00000306253.9:n.6650G>C
ENST00000354582.12:c.6615G>C	ENSP00000346595.8:p.Met2205Ile
ENST00000443694.5:c.6594G>C	ENSP00000401671.2:p.Met2198Ile
ENST00000354582.11:c.6615G>C	ENSP00000346595.8:p.Met2205Ile
ENST00000357086.10:c.6495G>C	ENSP00000349597.4:p.Met2165Ile
ENST00000443694.4:c.6594G>C	ENSP00000401671.2:p.Met2198Ile
ENST00000456211.8:c.6450G>C	ENSP00000397885.2:p.Met2150Ile
ENST00000481415.2:n.531G>C
ENST00000544951.6:c.997-18133G>C	ENSP00000440564.1:n.997-18133G>C
ENST00000647708.1:c.2538G>C
ENST00000647717.1:n.4143G>C
ENST00000648016.1:c.2974G>C
ENST00000648038.1:c.4401G>C	ENSP00000497872.1:p.Met1467Ile
ENST00000648212.1:c.3547G>C
ENST00000648266.1:c.6612G>C	ENSP00000498014.1:p.Met2204Ile
ENST00000648309.1:c.6567G>C	ENSP00000497026.1:p.Met2189Ile
ENST00000648390.1:c.447-58169G>C
ENST00000648431.1:c.3941G>C
ENST00000648510.1:n.473G>C
ENST00000649015.2:c.6639G>C MANE Select	ENSP00000497605.1:p.Met2213Ile
ENST00000649144.1:n.1687G>C
ENST00000649272.1:n.201G>C
ENST00000649694.1:n.4124G>C
ENST00000650294.1:c.6597G>C	ENSP00000498056.1:p.Met2199Ile
ENST00000302640.12:c.6594G>C	ENSP00000306253.8:p.Met2198Ile
ENST00000354582.10:c.6639G>C	ENSP00000346595.7:p.Met2213Ile
ENST00000357086.9:c.6495G>C	ENSP00000349597.4:p.Met2165Ile
ENST00000443694.3:c.6594G>C	ENSP00000401671.2:p.Met2198Ile
ENST00000456211.7:c.6450G>C	ENSP00000397885.2:p.Met2150Ile
ENST00000481415.1:n.531G>C
ENST00000544951.5:c.997-18133G>C	ENSP00000440564.1:n.997-18133G>C
NM_001099952.2:c.6495G>C	NP_001093422.2:p.Met2165Ile
NM_001168272.1:c.6594G>C	NP_001161744.1:p.Met2198Ile
NM_002222.5:c.6450G>C	NP_002213.5:p.Met2150Ile
XM_005265109.2:c.6570G>C	XP_005265166.1:p.Met2190Ile
XM_005265110.2:c.6522G>C	XP_005265167.1:p.Met2174Ile
XM_006713131.2:c.6573G>C	XP_006713194.1:p.Met2191Ile
XM_011533681.1:c.6642G>C	XP_011531983.1:p.Met2214Ile
XM_011533682.1:c.6642G>C	XP_011531984.1:p.Met2214Ile
XM_011533683.1:c.6639G>C	XP_011531985.1:p.Met2213Ile
XM_011533684.1:c.6615G>C	XP_011531986.1:p.Met2205Ile
XM_011533685.1:c.6609G>C	XP_011531987.1:p.Met2203Ile
XM_011533686.1:c.6606G>C	XP_011531988.1:p.Met2202Ile
XM_011533687.1:c.6597G>C	XP_011531989.1:p.Met2199Ile
XM_011533688.1:c.6570G>C	XP_011531990.1:p.Met2190Ile
XM_011533689.1:c.6531G>C	XP_011531991.1:p.Met2177Ile
XM_011533690.1:c.6642G>C	XP_011531992.1:p.Met2214Ile
XM_005265109.3:c.6570G>C	XP_005265166.1:p.Met2190Ile
XM_005265110.3:c.6522G>C	XP_005265167.1:p.Met2174Ile
XM_006713131.3:c.6573G>C	XP_006713194.1:p.Met2191Ile
XM_011533682.3:c.6642G>C	XP_011531984.1:p.Met2214Ile
XM_011533683.3:c.6639G>C	XP_011531985.1:p.Met2213Ile
XM_011533684.2:c.6615G>C	XP_011531986.1:p.Met2205Ile
XM_011533685.2:c.6609G>C	XP_011531987.1:p.Met2203Ile
XM_011533686.2:c.6606G>C	XP_011531988.1:p.Met2202Ile
XM_011533687.2:c.6597G>C	XP_011531989.1:p.Met2199Ile
XM_011533688.2:c.6570G>C	XP_011531990.1:p.Met2190Ile
XM_011533690.2:c.6642G>C	XP_011531992.1:p.Met2214Ile
XM_017006357.2:c.6639G>C	XP_016861846.1:p.Met2213Ile
NM_001099952.3:c.6495G>C	NP_001093422.2:p.Met2165Ile
NM_002222.6:c.6450G>C	NP_002213.5:p.Met2150Ile
NM_001099952.4:c.6495G>C	NP_001093422.2:p.Met2165Ile
NM_001168272.2:c.6594G>C	NP_001161744.1:p.Met2198Ile
NM_001378452.1:c.6639G>C MANE Select	NP_001365381.1:p.Met2213Ile
NM_002222.7:c.6450G>C	NP_002213.5:p.Met2150Ile