Canonical Allele Identifier: CA351640443

Gene: ITPR1

Linked Data

• MyVariant Identifiers: chr3:g.4829641T>C (hg19) ; chr3:g.4787957T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4787957T>C , CM000665.2:g.4787957T>C	GRCh38
NC_000003.11:g.4829641T>C , CM000665.1:g.4829641T>C	GRCh37
NC_000003.10:g.4804641T>C	NCBI36
NG_016144.1:g.299610T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000302640.13:c.6637T>C	ENSP00000306253.9:n.6637T>C
ENST00000354582.12:c.6602T>C	ENSP00000346595.8:p.Leu2201Ser
ENST00000443694.5:c.6581T>C	ENSP00000401671.2:p.Leu2194Ser
ENST00000354582.11:c.6602T>C	ENSP00000346595.8:p.Leu2201Ser
ENST00000357086.10:c.6482T>C	ENSP00000349597.4:p.Leu2161Ser
ENST00000443694.4:c.6581T>C	ENSP00000401671.2:p.Leu2194Ser
ENST00000456211.8:c.6437T>C	ENSP00000397885.2:p.Leu2146Ser
ENST00000481415.2:n.518T>C
ENST00000544951.6:c.997-18146T>C	ENSP00000440564.1:n.997-18146T>C
ENST00000647708.1:c.2525T>C
ENST00000647717.1:n.4130T>C
ENST00000648016.1:c.2961T>C
ENST00000648038.1:c.4388T>C	ENSP00000497872.1:p.Leu1463Ser
ENST00000648212.1:c.3534T>C
ENST00000648266.1:c.6599T>C	ENSP00000498014.1:p.Leu2200Ser
ENST00000648309.1:c.6554T>C	ENSP00000497026.1:p.Leu2185Ser
ENST00000648390.1:c.447-58182T>C
ENST00000648431.1:c.3928T>C
ENST00000648510.1:n.460T>C
ENST00000649015.2:c.6626T>C MANE Select	ENSP00000497605.1:p.Leu2209Ser
ENST00000649144.1:n.1674T>C
ENST00000649272.1:n.188T>C
ENST00000649694.1:n.4111T>C
ENST00000650294.1:c.6584T>C	ENSP00000498056.1:p.Leu2195Ser
ENST00000302640.12:c.6581T>C	ENSP00000306253.8:p.Leu2194Ser
ENST00000354582.10:c.6626T>C	ENSP00000346595.7:p.Leu2209Ser
ENST00000357086.9:c.6482T>C	ENSP00000349597.4:p.Leu2161Ser
ENST00000443694.3:c.6581T>C	ENSP00000401671.2:p.Leu2194Ser
ENST00000456211.7:c.6437T>C	ENSP00000397885.2:p.Leu2146Ser
ENST00000481415.1:n.518T>C
ENST00000544951.5:c.997-18146T>C	ENSP00000440564.1:n.997-18146T>C
NM_001099952.2:c.6482T>C	NP_001093422.2:p.Leu2161Ser
NM_001168272.1:c.6581T>C	NP_001161744.1:p.Leu2194Ser
NM_002222.5:c.6437T>C	NP_002213.5:p.Leu2146Ser
XM_005265109.2:c.6557T>C	XP_005265166.1:p.Leu2186Ser
XM_005265110.2:c.6509T>C	XP_005265167.1:p.Leu2170Ser
XM_006713131.2:c.6560T>C	XP_006713194.1:p.Leu2187Ser
XM_011533681.1:c.6629T>C	XP_011531983.1:p.Leu2210Ser
XM_011533682.1:c.6629T>C	XP_011531984.1:p.Leu2210Ser
XM_011533683.1:c.6626T>C	XP_011531985.1:p.Leu2209Ser
XM_011533684.1:c.6602T>C	XP_011531986.1:p.Leu2201Ser
XM_011533685.1:c.6596T>C	XP_011531987.1:p.Leu2199Ser
XM_011533686.1:c.6593T>C	XP_011531988.1:p.Leu2198Ser
XM_011533687.1:c.6584T>C	XP_011531989.1:p.Leu2195Ser
XM_011533688.1:c.6557T>C	XP_011531990.1:p.Leu2186Ser
XM_011533689.1:c.6518T>C	XP_011531991.1:p.Leu2173Ser
XM_011533690.1:c.6629T>C	XP_011531992.1:p.Leu2210Ser
XM_005265109.3:c.6557T>C	XP_005265166.1:p.Leu2186Ser
XM_005265110.3:c.6509T>C	XP_005265167.1:p.Leu2170Ser
XM_006713131.3:c.6560T>C	XP_006713194.1:p.Leu2187Ser
XM_011533682.3:c.6629T>C	XP_011531984.1:p.Leu2210Ser
XM_011533683.3:c.6626T>C	XP_011531985.1:p.Leu2209Ser
XM_011533684.2:c.6602T>C	XP_011531986.1:p.Leu2201Ser
XM_011533685.2:c.6596T>C	XP_011531987.1:p.Leu2199Ser
XM_011533686.2:c.6593T>C	XP_011531988.1:p.Leu2198Ser
XM_011533687.2:c.6584T>C	XP_011531989.1:p.Leu2195Ser
XM_011533688.2:c.6557T>C	XP_011531990.1:p.Leu2186Ser
XM_011533690.2:c.6629T>C	XP_011531992.1:p.Leu2210Ser
XM_017006357.2:c.6626T>C	XP_016861846.1:p.Leu2209Ser
NM_001099952.3:c.6482T>C	NP_001093422.2:p.Leu2161Ser
NM_002222.6:c.6437T>C	NP_002213.5:p.Leu2146Ser
NM_001099952.4:c.6482T>C	NP_001093422.2:p.Leu2161Ser
NM_001168272.2:c.6581T>C	NP_001161744.1:p.Leu2194Ser
NM_001378452.1:c.6626T>C MANE Select	NP_001365381.1:p.Leu2209Ser
NM_002222.7:c.6437T>C	NP_002213.5:p.Leu2146Ser