Canonical Allele Identifier: CA368803726
Community Standard Title: NM_021930.6(RINT1):c.450C>A (p.Ser150Arg)
Gene: RINT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.105542584C>A , CM000669.2:g.105542584C>A GRCh38
NC_000007.13:g.105183031C>A , CM000669.1:g.105183031C>A GRCh37
NC_000007.12:g.104970267C>A NCBI36
NG_051951.1:g.15504C>A

Transcript Alleles

HGVS Amino-acid Change
NM_021930.6:c.450C>A MANE Select NP_068749.3:p.Ser150Arg
ENST00000257700.7:c.450C>A MANE Select ENSP00000257700.2:p.Ser150Arg
NM_001346599.1:c.216C>A NP_001333528.1:p.Ser72Arg
NM_001346599.2:c.216C>A NP_001333528.1:p.Ser72Arg
NM_001346600.1:c.-570C>A NP_001333529.1:n.-570C>A
NM_001346600.2:c.-570C>A NP_001333529.1:n.-570C>A
NM_001346601.1:c.-473C>A NP_001333530.1:n.-473C>A
NM_001346601.2:c.-473C>A NP_001333530.1:n.-473C>A
NM_001346603.1:c.-93C>A NP_001333532.1:n.-93C>A
NM_001346603.2:c.-93C>A NP_001333532.1:n.-93C>A
NM_021930.4:c.450C>A NP_068749.3:p.Ser150Arg
NM_021930.5:c.450C>A NP_068749.3:p.Ser150Arg
NR_144478.1:n.685C>A
NR_144478.2:n.565C>A
ENST00000257700.6:c.450C>A ENSP00000257700.2:p.Ser150Arg
ENST00000467392.5:c.*148C>A ENSP00000418805.1:n.*148C>A
ENST00000493041.5:c.357C>A ENSP00000417954.1:p.Ser119Arg
ENST00000493258.1:n.345C>A
ENST00000497979.5:c.*55C>A ENSP00000420582.1:n.*55C>A
XM_024446855.1:c.450C>A XP_024302623.1:p.Ser150Arg
XM_024446856.1:c.-93C>A XP_024302624.1:n.-93C>A
XR_927507.1:n.597C>A