Canonical Allele Identifier: CA368803724
Community Standard Title: NM_021930.6(RINT1):c.450C>G (p.Ser150Arg)
Gene: RINT1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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