Canonical Allele Identifier: CA1785188270
Gene: RP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54626327A= , CM000670.2:g.54626327A= GRCh38
NC_000008.10:g.55538887A= , CM000670.1:g.55538887A= GRCh37
NC_000008.9:g.55701440A= NCBI36
NG_009840.1:g.15261A=
NG_009840.2:g.15261A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.2445A= MANE Select ENSP00000220676.1:p.Glu815=
ENST00000636932.1:c.787+4039A= ENSP00000489857.1:n.787+4039A=
ENST00000637698.1:c.787+4039A= ENSP00000490104.1:n.787+4039A=
ENST00000220676.1:c.2445A= ENSP00000220676.1:p.Glu815=
NM_006269.1:c.2445A= NP_006260.1:p.Glu815=
XM_017013721.1:c.2466A= XP_016869210.1:p.Glu822=
XM_017013722.1:c.2445A= XP_016869211.1:p.Glu815=
NM_001375654.1:c.787+4039A= NP_001362583.1:n.787+4039A=
NM_006269.2:c.2445A= MANE Select NP_006260.1:p.Glu815=