Canonical Allele Identifier: CA1785165011
Community Standard Title: NM_006269.2(RP1):c.5797C= (p.Arg1933=)
Gene: RP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54629679C= , CM000670.2:g.54629679C= GRCh38
NC_000008.10:g.55542239C= , CM000670.1:g.55542239C= GRCh37
NC_000008.9:g.55704792C= NCBI36
NG_009840.1:g.18613C=
NG_009840.2:g.18613C=

Transcript Alleles

HGVS Amino-acid Change
NM_006269.2:c.5797C= MANE Select NP_006260.1:p.Arg1933=
ENST00000220676.2:c.5797C= MANE Select ENSP00000220676.1:p.Arg1933=
NM_001375654.1:c.787+7391C= NP_001362583.1:n.787+7391C=
NM_006269.1:c.5797C= NP_006260.1:p.Arg1933=
ENST00000220676.1:c.5797C= ENSP00000220676.1:p.Arg1933=
ENST00000636932.1:c.787+7391C= ENSP00000489857.1:n.787+7391C=
ENST00000637698.1:c.787+7391C= ENSP00000490104.1:n.787+7391C=
XM_017013721.1:c.5818C= XP_016869210.1:p.Arg1940=
XM_017013722.1:c.5797C= XP_016869211.1:p.Arg1933=