Canonical Allele Identifier: CA363698054

Gene: ITPR3

Linked Data

• dbSNP Id: rs1764689221
• gnomAD v4: 6-33669099-T-C
• MyVariant Identifiers: chr6:g.33636876T>C (hg19) ; chr6:g.33669099T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2132T>C MANE Select	ENSP00000475177.1:p.Leu711Pro
ENST00000374316.9:c.2132T>C	ENSP00000363435.4:p.Leu711Pro
ENST00000605930.2:c.2132T>C	ENSP00000475177.1:p.Leu711Pro
NM_002224.3:c.2132T>C	NP_002215.2:p.Leu711Pro
XM_011514576.1:c.2201T>C	XP_011512878.1:p.Leu734Pro
XM_011514577.1:c.1949T>C	XP_011512879.1:p.Leu650Pro
XM_011514577.3:c.1949T>C	XP_011512879.1:p.Leu650Pro
XM_017010832.1:c.2132T>C	XP_016866321.1:p.Leu711Pro
NM_002224.4:c.2132T>C MANE Select	NP_002215.2:p.Leu711Pro