Canonical Allele Identifier: CA1785188886
Gene: RP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54627780G= , CM000670.2:g.54627780G= GRCh38
NC_000008.10:g.55540340G= , CM000670.1:g.55540340G= GRCh37
NC_000008.9:g.55702893G= NCBI36
NG_009840.1:g.16714G=
NG_009840.2:g.16714G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.3898G= MANE Select ENSP00000220676.1:p.Gly1300=
ENST00000636932.1:c.787+5492G= ENSP00000489857.1:n.787+5492G=
ENST00000637698.1:c.787+5492G= ENSP00000490104.1:n.787+5492G=
ENST00000220676.1:c.3898G= ENSP00000220676.1:p.Gly1300=
NM_006269.1:c.3898G= NP_006260.1:p.Gly1300=
XM_017013721.1:c.3919G= XP_016869210.1:p.Gly1307=
XM_017013722.1:c.3898G= XP_016869211.1:p.Gly1300=
NM_001375654.1:c.787+5492G= NP_001362583.1:n.787+5492G=
NM_006269.2:c.3898G= MANE Select NP_006260.1:p.Gly1300=