Canonical Allele Identifier: CA363698056

Gene: ITPR3

Linked Data

• MyVariant Identifiers: chr6:g.33636876T>G (hg19) ; chr6:g.33669099T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669099T>G , CM000668.2:g.33669099T>G	GRCh38
NC_000006.11:g.33636876T>G , CM000668.1:g.33636876T>G	GRCh37
NC_000006.10:g.33744854T>G	NCBI36
NG_027729.1:g.52721T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2132T>G MANE Select	ENSP00000475177.1:p.Leu711Arg
ENST00000374316.9:c.2132T>G	ENSP00000363435.4:p.Leu711Arg
ENST00000605930.2:c.2132T>G	ENSP00000475177.1:p.Leu711Arg
NM_002224.3:c.2132T>G	NP_002215.2:p.Leu711Arg
XM_011514576.1:c.2201T>G	XP_011512878.1:p.Leu734Arg
XM_011514577.1:c.1949T>G	XP_011512879.1:p.Leu650Arg
XM_011514577.3:c.1949T>G	XP_011512879.1:p.Leu650Arg
XM_017010832.1:c.2132T>G	XP_016866321.1:p.Leu711Arg
NM_002224.4:c.2132T>G MANE Select	NP_002215.2:p.Leu711Arg