Canonical Allele Identifier: CA351638333

Gene: ITPR1

Linked Data

• MyVariant Identifiers: chr3:g.4821280A>C (hg19) ; chr3:g.4779596A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4779596A>C , CM000665.2:g.4779596A>C	GRCh38
NC_000003.11:g.4821280A>C , CM000665.1:g.4821280A>C	GRCh37
NC_000003.10:g.4796280A>C	NCBI36
NG_016144.1:g.291249A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6349A>C	ENSP00000306253.9:n.6349A>C
ENST00000354582.12:c.6314A>C	ENSP00000346595.8:p.Asp2105Ala
ENST00000443694.5:c.6293A>C	ENSP00000401671.2:p.Asp2098Ala
ENST00000354582.11:c.6314A>C	ENSP00000346595.8:p.Asp2105Ala
ENST00000357086.10:c.6194A>C	ENSP00000349597.4:p.Asp2065Ala
ENST00000443694.4:c.6293A>C	ENSP00000401671.2:p.Asp2098Ala
ENST00000456211.8:c.6149A>C	ENSP00000397885.2:p.Asp2050Ala
ENST00000544951.6:c.997-26507A>C	ENSP00000440564.1:n.997-26507A>C
ENST00000647708.1:c.2237A>C
ENST00000647717.1:n.3842A>C
ENST00000648016.1:c.2673A>C
ENST00000648038.1:c.4100A>C	ENSP00000497872.1:p.Asp1367Ala
ENST00000648212.1:c.3246A>C
ENST00000648266.1:c.6311A>C	ENSP00000498014.1:p.Asp2104Ala
ENST00000648309.1:c.6266A>C	ENSP00000497026.1:p.Asp2089Ala
ENST00000648390.1:c.447-66543A>C
ENST00000648431.1:c.3640A>C
ENST00000648510.1:n.172A>C
ENST00000649015.2:c.6338A>C MANE Select	ENSP00000497605.1:p.Asp2113Ala
ENST00000649144.1:n.1386A>C
ENST00000649694.1:n.3823A>C
ENST00000650294.1:c.6296A>C	ENSP00000498056.1:p.Asp2099Ala
ENST00000302640.12:c.6293A>C	ENSP00000306253.8:p.Asp2098Ala
ENST00000354582.10:c.6338A>C	ENSP00000346595.7:p.Asp2113Ala
ENST00000357086.9:c.6194A>C	ENSP00000349597.4:p.Asp2065Ala
ENST00000443694.3:c.6293A>C	ENSP00000401671.2:p.Asp2098Ala
ENST00000456211.7:c.6149A>C	ENSP00000397885.2:p.Asp2050Ala
ENST00000544951.5:c.997-26507A>C	ENSP00000440564.1:n.997-26507A>C
NM_001099952.2:c.6194A>C	NP_001093422.2:p.Asp2065Ala
NM_001168272.1:c.6293A>C	NP_001161744.1:p.Asp2098Ala
NM_002222.5:c.6149A>C	NP_002213.5:p.Asp2050Ala
XM_005265109.2:c.6269A>C	XP_005265166.1:p.Asp2090Ala
XM_005265110.2:c.6221A>C	XP_005265167.1:p.Asp2074Ala
XM_006713131.2:c.6272A>C	XP_006713194.1:p.Asp2091Ala
XM_011533681.1:c.6341A>C	XP_011531983.1:p.Asp2114Ala
XM_011533682.1:c.6341A>C	XP_011531984.1:p.Asp2114Ala
XM_011533683.1:c.6338A>C	XP_011531985.1:p.Asp2113Ala
XM_011533684.1:c.6314A>C	XP_011531986.1:p.Asp2105Ala
XM_011533685.1:c.6308A>C	XP_011531987.1:p.Asp2103Ala
XM_011533686.1:c.6305A>C	XP_011531988.1:p.Asp2102Ala
XM_011533687.1:c.6296A>C	XP_011531989.1:p.Asp2099Ala
XM_011533688.1:c.6269A>C	XP_011531990.1:p.Asp2090Ala
XM_011533689.1:c.6230A>C	XP_011531991.1:p.Asp2077Ala
XM_011533690.1:c.6341A>C	XP_011531992.1:p.Asp2114Ala
XM_005265109.3:c.6269A>C	XP_005265166.1:p.Asp2090Ala
XM_005265110.3:c.6221A>C	XP_005265167.1:p.Asp2074Ala
XM_006713131.3:c.6272A>C	XP_006713194.1:p.Asp2091Ala
XM_011533682.3:c.6341A>C	XP_011531984.1:p.Asp2114Ala
XM_011533683.3:c.6338A>C	XP_011531985.1:p.Asp2113Ala
XM_011533684.2:c.6314A>C	XP_011531986.1:p.Asp2105Ala
XM_011533685.2:c.6308A>C	XP_011531987.1:p.Asp2103Ala
XM_011533686.2:c.6305A>C	XP_011531988.1:p.Asp2102Ala
XM_011533687.2:c.6296A>C	XP_011531989.1:p.Asp2099Ala
XM_011533688.2:c.6269A>C	XP_011531990.1:p.Asp2090Ala
XM_011533690.2:c.6341A>C	XP_011531992.1:p.Asp2114Ala
XM_017006357.2:c.6338A>C	XP_016861846.1:p.Asp2113Ala
NM_001099952.3:c.6194A>C	NP_001093422.2:p.Asp2065Ala
NM_002222.6:c.6149A>C	NP_002213.5:p.Asp2050Ala
NM_001099952.4:c.6194A>C	NP_001093422.2:p.Asp2065Ala
NM_001168272.2:c.6293A>C	NP_001161744.1:p.Asp2098Ala
NM_001378452.1:c.6338A>C MANE Select	NP_001365381.1:p.Asp2113Ala
NM_002222.7:c.6149A>C	NP_002213.5:p.Asp2050Ala