Canonical Allele Identifier: CA363698048

Gene: ITPR3

Linked Data

• MyVariant Identifiers: chr6:g.33636875C>A (hg19) ; chr6:g.33669098C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669098C>A , CM000668.2:g.33669098C>A	GRCh38
NC_000006.11:g.33636875C>A , CM000668.1:g.33636875C>A	GRCh37
NC_000006.10:g.33744853C>A	NCBI36
NG_027729.1:g.52720C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2131C>A MANE Select	ENSP00000475177.1:p.Leu711Met
ENST00000374316.9:c.2131C>A	ENSP00000363435.4:p.Leu711Met
ENST00000605930.2:c.2131C>A	ENSP00000475177.1:p.Leu711Met
NM_002224.3:c.2131C>A	NP_002215.2:p.Leu711Met
XM_011514576.1:c.2200C>A	XP_011512878.1:p.Leu734Met
XM_011514577.1:c.1948C>A	XP_011512879.1:p.Leu650Met
XM_011514577.3:c.1948C>A	XP_011512879.1:p.Leu650Met
XM_017010832.1:c.2131C>A	XP_016866321.1:p.Leu711Met
NM_002224.4:c.2131C>A MANE Select	NP_002215.2:p.Leu711Met