Canonical Allele Identifier: CA4426427
Community Standard Title: NM_021930.6(RINT1):c.448A>C (p.Ser150Arg)
Gene: RINT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.105542582A>C , CM000669.2:g.105542582A>C GRCh38
NC_000007.13:g.105183029A>C , CM000669.1:g.105183029A>C GRCh37
NC_000007.12:g.104970265A>C NCBI36
NG_051951.1:g.15502A>C

Transcript Alleles

HGVS Amino-acid Change
NM_021930.6:c.448A>C MANE Select NP_068749.3:p.Ser150Arg
ENST00000257700.7:c.448A>C MANE Select ENSP00000257700.2:p.Ser150Arg
NM_001346599.1:c.214A>C NP_001333528.1:p.Ser72Arg
NM_001346599.2:c.214A>C NP_001333528.1:p.Ser72Arg
NM_001346600.1:c.-572A>C NP_001333529.1:n.-572A>C
NM_001346600.2:c.-572A>C NP_001333529.1:n.-572A>C
NM_001346601.1:c.-475A>C NP_001333530.1:n.-475A>C
NM_001346601.2:c.-475A>C NP_001333530.1:n.-475A>C
NM_001346603.1:c.-95A>C NP_001333532.1:n.-95A>C
NM_001346603.2:c.-95A>C NP_001333532.1:n.-95A>C
NM_021930.4:c.448A>C NP_068749.3:p.Ser150Arg
NM_021930.5:c.448A>C NP_068749.3:p.Ser150Arg
NR_144478.1:n.683A>C
NR_144478.2:n.563A>C
ENST00000257700.6:c.448A>C ENSP00000257700.2:p.Ser150Arg
ENST00000467392.5:c.*146A>C ENSP00000418805.1:n.*146A>C
ENST00000493041.5:c.355A>C ENSP00000417954.1:p.Ser119Arg
ENST00000493258.1:n.343A>C
ENST00000497979.5:c.*53A>C ENSP00000420582.1:n.*53A>C
XM_024446855.1:c.448A>C XP_024302623.1:p.Ser150Arg
XM_024446856.1:c.-95A>C XP_024302624.1:n.-95A>C
XR_927507.1:n.595A>C