Canonical Allele Identifier: CA164048588
Community Standard Title: NM_021930.6(RINT1):c.311G>A (p.Arg104Gln)
Gene: RINT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.105542445G>A , CM000669.2:g.105542445G>A GRCh38
NC_000007.13:g.105182892G>A , CM000669.1:g.105182892G>A GRCh37
NC_000007.12:g.104970128G>A NCBI36
NG_051951.1:g.15365G>A

Transcript Alleles

HGVS Amino-acid Change
NM_021930.6:c.311G>A MANE Select NP_068749.3:p.Arg104Gln
ENST00000257700.7:c.311G>A MANE Select ENSP00000257700.2:p.Arg104Gln
NM_001346599.1:c.77G>A NP_001333528.1:p.Arg26Gln
NM_001346599.2:c.77G>A NP_001333528.1:p.Arg26Gln
NM_001346600.1:c.-709G>A NP_001333529.1:n.-709G>A
NM_001346600.2:c.-709G>A NP_001333529.1:n.-709G>A
NM_001346601.1:c.-612G>A NP_001333530.1:n.-612G>A
NM_001346601.2:c.-612G>A NP_001333530.1:n.-612G>A
NM_001346603.1:c.-232G>A NP_001333532.1:n.-232G>A
NM_001346603.2:c.-232G>A NP_001333532.1:n.-232G>A
NM_021930.4:c.311G>A NP_068749.3:p.Arg104Gln
NM_021930.5:c.311G>A NP_068749.3:p.Arg104Gln
NR_144478.1:n.546G>A
NR_144478.2:n.426G>A
ENST00000257700.6:c.311G>A ENSP00000257700.2:p.Arg104Gln
ENST00000467392.5:c.*9G>A ENSP00000418805.1:n.*9G>A
ENST00000477285.1:n.293G>A
ENST00000482041.5:c.*305G>A ENSP00000417107.1:n.*305G>A
ENST00000493041.5:c.218G>A ENSP00000417954.1:p.Arg73Gln
ENST00000493258.1:n.206G>A
ENST00000497979.5:c.137-47G>A ENSP00000420582.1:n.137-47G>A
XM_024446855.1:c.311G>A XP_024302623.1:p.Arg104Gln
XM_024446856.1:c.-232G>A XP_024302624.1:n.-232G>A
XR_927507.1:n.458G>A