Canonical Allele Identifier: CA432318229

Gene: ITPR1

Linked Data

• MyVariant Identifiers: chr3:g.4821272C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4779588C>T , CM000665.2:g.4779588C>T	GRCh38
NC_000003.11:g.4821272C>T , CM000665.1:g.4821272C>T	GRCh37
NC_000003.10:g.4796272C>T	NCBI36
NG_016144.1:g.291241C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6341C>T	ENSP00000306253.9:n.6341C>T
ENST00000354582.12:c.6306C>T	ENSP00000346595.8:p.Ser2102=
ENST00000443694.5:c.6285C>T	ENSP00000401671.2:p.Ser2095=
ENST00000354582.11:c.6306C>T	ENSP00000346595.8:p.Ser2102=
ENST00000357086.10:c.6186C>T	ENSP00000349597.4:p.Ser2062=
ENST00000443694.4:c.6285C>T	ENSP00000401671.2:p.Ser2095=
ENST00000456211.8:c.6141C>T	ENSP00000397885.2:p.Ser2047=
ENST00000544951.6:c.997-26515C>T	ENSP00000440564.1:n.997-26515C>T
ENST00000647708.1:c.2229C>T
ENST00000647717.1:n.3834C>T
ENST00000648016.1:c.2665C>T
ENST00000648038.1:c.4092C>T	ENSP00000497872.1:p.Ser1364=
ENST00000648212.1:c.3238C>T
ENST00000648266.1:c.6303C>T	ENSP00000498014.1:p.Ser2101=
ENST00000648309.1:c.6258C>T	ENSP00000497026.1:p.Ser2086=
ENST00000648390.1:c.447-66551C>T
ENST00000648431.1:c.3632C>T
ENST00000648510.1:n.164C>T
ENST00000649015.2:c.6330C>T MANE Select	ENSP00000497605.1:p.Ser2110=
ENST00000649144.1:n.1378C>T
ENST00000649694.1:n.3815C>T
ENST00000650294.1:c.6288C>T	ENSP00000498056.1:p.Ser2096=
ENST00000302640.12:c.6285C>T	ENSP00000306253.8:p.Ser2095=
ENST00000354582.10:c.6330C>T	ENSP00000346595.7:p.Ser2110=
ENST00000357086.9:c.6186C>T	ENSP00000349597.4:p.Ser2062=
ENST00000443694.3:c.6285C>T	ENSP00000401671.2:p.Ser2095=
ENST00000456211.7:c.6141C>T	ENSP00000397885.2:p.Ser2047=
ENST00000544951.5:c.997-26515C>T	ENSP00000440564.1:n.997-26515C>T
NM_001099952.2:c.6186C>T	NP_001093422.2:p.Ser2062=
NM_001168272.1:c.6285C>T	NP_001161744.1:p.Ser2095=
NM_002222.5:c.6141C>T	NP_002213.5:p.Ser2047=
XM_005265109.2:c.6261C>T	XP_005265166.1:p.Ser2087=
XM_005265110.2:c.6213C>T	XP_005265167.1:p.Ser2071=
XM_006713131.2:c.6264C>T	XP_006713194.1:p.Ser2088=
XM_011533681.1:c.6333C>T	XP_011531983.1:p.Ser2111=
XM_011533682.1:c.6333C>T	XP_011531984.1:p.Ser2111=
XM_011533683.1:c.6330C>T	XP_011531985.1:p.Ser2110=
XM_011533684.1:c.6306C>T	XP_011531986.1:p.Ser2102=
XM_011533685.1:c.6300C>T	XP_011531987.1:p.Ser2100=
XM_011533686.1:c.6297C>T	XP_011531988.1:p.Ser2099=
XM_011533687.1:c.6288C>T	XP_011531989.1:p.Ser2096=
XM_011533688.1:c.6261C>T	XP_011531990.1:p.Ser2087=
XM_011533689.1:c.6222C>T	XP_011531991.1:p.Ser2074=
XM_011533690.1:c.6333C>T	XP_011531992.1:p.Ser2111=
XM_005265109.3:c.6261C>T	XP_005265166.1:p.Ser2087=
XM_005265110.3:c.6213C>T	XP_005265167.1:p.Ser2071=
XM_006713131.3:c.6264C>T	XP_006713194.1:p.Ser2088=
XM_011533682.3:c.6333C>T	XP_011531984.1:p.Ser2111=
XM_011533683.3:c.6330C>T	XP_011531985.1:p.Ser2110=
XM_011533684.2:c.6306C>T	XP_011531986.1:p.Ser2102=
XM_011533685.2:c.6300C>T	XP_011531987.1:p.Ser2100=
XM_011533686.2:c.6297C>T	XP_011531988.1:p.Ser2099=
XM_011533687.2:c.6288C>T	XP_011531989.1:p.Ser2096=
XM_011533688.2:c.6261C>T	XP_011531990.1:p.Ser2087=
XM_011533690.2:c.6333C>T	XP_011531992.1:p.Ser2111=
XM_017006357.2:c.6330C>T	XP_016861846.1:p.Ser2110=
NM_001099952.3:c.6186C>T	NP_001093422.2:p.Ser2062=
NM_002222.6:c.6141C>T	NP_002213.5:p.Ser2047=
NM_001099952.4:c.6186C>T	NP_001093422.2:p.Ser2062=
NM_001168272.2:c.6285C>T	NP_001161744.1:p.Ser2095=
NM_001378452.1:c.6330C>T MANE Select	NP_001365381.1:p.Ser2110=
NM_002222.7:c.6141C>T	NP_002213.5:p.Ser2047=