Canonical Allele Identifier: CA1785189013
Gene: RP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54628057A= , CM000670.2:g.54628057A= GRCh38
NC_000008.10:g.55540617A= , CM000670.1:g.55540617A= GRCh37
NC_000008.9:g.55703170A= NCBI36
NG_009840.1:g.16991A=
NG_009840.2:g.16991A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.4175A= MANE Select ENSP00000220676.1:p.Asn1392=
ENST00000636932.1:c.787+5769A= ENSP00000489857.1:n.787+5769A=
ENST00000637698.1:c.787+5769A= ENSP00000490104.1:n.787+5769A=
ENST00000220676.1:c.4175A= ENSP00000220676.1:p.Asn1392=
NM_006269.1:c.4175A= NP_006260.1:p.Asn1392=
XM_017013721.1:c.4196A= XP_016869210.1:p.Asn1399=
XM_017013722.1:c.4175A= XP_016869211.1:p.Asn1392=
NM_001375654.1:c.787+5769A= NP_001362583.1:n.787+5769A=
NM_006269.2:c.4175A= MANE Select NP_006260.1:p.Asn1392=