Canonical Allele Identifier: CA351640464

Gene: ITPR1

Linked Data

• MyVariant Identifiers: chr3:g.4829652A>C (hg19) ; chr3:g.4787968A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4787968A>C , CM000665.2:g.4787968A>C	GRCh38
NC_000003.11:g.4829652A>C , CM000665.1:g.4829652A>C	GRCh37
NC_000003.10:g.4804652A>C	NCBI36
NG_016144.1:g.299621A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6648A>C	ENSP00000306253.9:n.6648A>C
ENST00000354582.12:c.6613A>C	ENSP00000346595.8:p.Met2205Leu
ENST00000443694.5:c.6592A>C	ENSP00000401671.2:p.Met2198Leu
ENST00000354582.11:c.6613A>C	ENSP00000346595.8:p.Met2205Leu
ENST00000357086.10:c.6493A>C	ENSP00000349597.4:p.Met2165Leu
ENST00000443694.4:c.6592A>C	ENSP00000401671.2:p.Met2198Leu
ENST00000456211.8:c.6448A>C	ENSP00000397885.2:p.Met2150Leu
ENST00000481415.2:n.529A>C
ENST00000544951.6:c.997-18135A>C	ENSP00000440564.1:n.997-18135A>C
ENST00000647708.1:c.2536A>C
ENST00000647717.1:n.4141A>C
ENST00000648016.1:c.2972A>C
ENST00000648038.1:c.4399A>C	ENSP00000497872.1:p.Met1467Leu
ENST00000648212.1:c.3545A>C
ENST00000648266.1:c.6610A>C	ENSP00000498014.1:p.Met2204Leu
ENST00000648309.1:c.6565A>C	ENSP00000497026.1:p.Met2189Leu
ENST00000648390.1:c.447-58171A>C
ENST00000648431.1:c.3939A>C
ENST00000648510.1:n.471A>C
ENST00000649015.2:c.6637A>C MANE Select	ENSP00000497605.1:p.Met2213Leu
ENST00000649144.1:n.1685A>C
ENST00000649272.1:n.199A>C
ENST00000649694.1:n.4122A>C
ENST00000650294.1:c.6595A>C	ENSP00000498056.1:p.Met2199Leu
ENST00000302640.12:c.6592A>C	ENSP00000306253.8:p.Met2198Leu
ENST00000354582.10:c.6637A>C	ENSP00000346595.7:p.Met2213Leu
ENST00000357086.9:c.6493A>C	ENSP00000349597.4:p.Met2165Leu
ENST00000443694.3:c.6592A>C	ENSP00000401671.2:p.Met2198Leu
ENST00000456211.7:c.6448A>C	ENSP00000397885.2:p.Met2150Leu
ENST00000481415.1:n.529A>C
ENST00000544951.5:c.997-18135A>C	ENSP00000440564.1:n.997-18135A>C
NM_001099952.2:c.6493A>C	NP_001093422.2:p.Met2165Leu
NM_001168272.1:c.6592A>C	NP_001161744.1:p.Met2198Leu
NM_002222.5:c.6448A>C	NP_002213.5:p.Met2150Leu
XM_005265109.2:c.6568A>C	XP_005265166.1:p.Met2190Leu
XM_005265110.2:c.6520A>C	XP_005265167.1:p.Met2174Leu
XM_006713131.2:c.6571A>C	XP_006713194.1:p.Met2191Leu
XM_011533681.1:c.6640A>C	XP_011531983.1:p.Met2214Leu
XM_011533682.1:c.6640A>C	XP_011531984.1:p.Met2214Leu
XM_011533683.1:c.6637A>C	XP_011531985.1:p.Met2213Leu
XM_011533684.1:c.6613A>C	XP_011531986.1:p.Met2205Leu
XM_011533685.1:c.6607A>C	XP_011531987.1:p.Met2203Leu
XM_011533686.1:c.6604A>C	XP_011531988.1:p.Met2202Leu
XM_011533687.1:c.6595A>C	XP_011531989.1:p.Met2199Leu
XM_011533688.1:c.6568A>C	XP_011531990.1:p.Met2190Leu
XM_011533689.1:c.6529A>C	XP_011531991.1:p.Met2177Leu
XM_011533690.1:c.6640A>C	XP_011531992.1:p.Met2214Leu
XM_005265109.3:c.6568A>C	XP_005265166.1:p.Met2190Leu
XM_005265110.3:c.6520A>C	XP_005265167.1:p.Met2174Leu
XM_006713131.3:c.6571A>C	XP_006713194.1:p.Met2191Leu
XM_011533682.3:c.6640A>C	XP_011531984.1:p.Met2214Leu
XM_011533683.3:c.6637A>C	XP_011531985.1:p.Met2213Leu
XM_011533684.2:c.6613A>C	XP_011531986.1:p.Met2205Leu
XM_011533685.2:c.6607A>C	XP_011531987.1:p.Met2203Leu
XM_011533686.2:c.6604A>C	XP_011531988.1:p.Met2202Leu
XM_011533687.2:c.6595A>C	XP_011531989.1:p.Met2199Leu
XM_011533688.2:c.6568A>C	XP_011531990.1:p.Met2190Leu
XM_011533690.2:c.6640A>C	XP_011531992.1:p.Met2214Leu
XM_017006357.2:c.6637A>C	XP_016861846.1:p.Met2213Leu
NM_001099952.3:c.6493A>C	NP_001093422.2:p.Met2165Leu
NM_002222.6:c.6448A>C	NP_002213.5:p.Met2150Leu
NM_001099952.4:c.6493A>C	NP_001093422.2:p.Met2165Leu
NM_001168272.2:c.6592A>C	NP_001161744.1:p.Met2198Leu
NM_001378452.1:c.6637A>C MANE Select	NP_001365381.1:p.Met2213Leu
NM_002222.7:c.6448A>C	NP_002213.5:p.Met2150Leu