Canonical Allele Identifier: CA363698110

Gene: ITPR3

Linked Data

• gnomAD v4: 6-33669114-G-T
• MyVariant Identifiers: chr6:g.33636891G>T (hg19) ; chr6:g.33669114G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669114G>T , CM000668.2:g.33669114G>T	GRCh38
NC_000006.11:g.33636891G>T , CM000668.1:g.33636891G>T	GRCh37
NC_000006.10:g.33744869G>T	NCBI36
NG_027729.1:g.52736G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2147G>T MANE Select	ENSP00000475177.1:p.Arg716Leu
ENST00000374316.9:c.2147G>T	ENSP00000363435.4:p.Arg716Leu
ENST00000605930.2:c.2147G>T	ENSP00000475177.1:p.Arg716Leu
NM_002224.3:c.2147G>T	NP_002215.2:p.Arg716Leu
XM_011514576.1:c.2216G>T	XP_011512878.1:p.Arg739Leu
XM_011514577.1:c.1964G>T	XP_011512879.1:p.Arg655Leu
XM_011514577.3:c.1964G>T	XP_011512879.1:p.Arg655Leu
XM_017010832.1:c.2147G>T	XP_016866321.1:p.Arg716Leu
NM_002224.4:c.2147G>T MANE Select	NP_002215.2:p.Arg716Leu