Canonical Allele Identifier: CA156176126
Gene: ITPRID1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.31584132T>C , CM000669.2:g.31584132T>C GRCh38
NC_000007.13:g.31623746T>C , CM000669.1:g.31623746T>C GRCh37
NC_000007.12:g.31590271T>C NCBI36
NG_051956.1:g.75062T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000615280.5:c.1228+941T>C MANE Select ENSP00000478518.2:n.1228+941T>C
ENST00000319386.7:c.784+941T>C ENSP00000313062.3:n.784+941T>C
ENST00000407970.7:c.1228+941T>C ENSP00000384416.3:n.1228+941T>C
ENST00000409210.1:c.952+941T>C ENSP00000387214.1:n.952+941T>C
ENST00000451887.6:c.1306+941T>C ENSP00000395835.2:n.1306+941T>C
ENST00000615280.4:c.1258+941T>C ENSP00000478518.1:n.1258+941T>C
NM_001257967.1:c.1258+941T>C NP_001244896.1:n.1258+941T>C
NM_001257968.1:c.1306+941T>C NP_001244897.1:n.1306+941T>C
NM_194300.3:c.1228+941T>C NP_919276.2:n.1228+941T>C
NR_047565.1:n.1777+941T>C
XM_011515213.1:c.1228+941T>C XP_011513515.1:n.1228+941T>C
XM_011515214.1:c.1228+941T>C XP_011513516.1:n.1228+941T>C
NM_001257967.2:c.1258+941T>C NP_001244896.1:n.1258+941T>C
NM_001257968.2:c.1306+941T>C NP_001244897.1:n.1306+941T>C
NM_194300.4:c.1228+941T>C NP_919276.2:n.1228+941T>C
NR_047565.2:n.1777+941T>C
XM_011515213.2:c.1228+941T>C XP_011513515.1:n.1228+941T>C
XM_017011871.2:c.1228+941T>C XP_016867360.1:n.1228+941T>C
XM_017011872.2:c.1228+941T>C XP_016867361.1:n.1228+941T>C
XM_024446692.1:c.952+941T>C XP_024302460.1:n.952+941T>C
NM_001257967.3:c.1228+941T>C MANE Select NP_001244896.2:n.1228+941T>C
NM_001257968.3:c.1228+941T>C NP_001244897.2:n.1228+941T>C
NM_194300.5:c.1228+941T>C NP_919276.2:n.1228+941T>C
NR_047565.3:n.1560+941T>C