Canonical Allele Identifier: CA1785188898
Gene: RP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54627820A= , CM000670.2:g.54627820A= GRCh38
NC_000008.10:g.55540380A= , CM000670.1:g.55540380A= GRCh37
NC_000008.9:g.55702933A= NCBI36
NG_009840.1:g.16754A=
NG_009840.2:g.16754A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.3938A= MANE Select ENSP00000220676.1:p.Lys1313=
ENST00000636932.1:c.787+5532A= ENSP00000489857.1:n.787+5532A=
ENST00000637698.1:c.787+5532A= ENSP00000490104.1:n.787+5532A=
ENST00000220676.1:c.3938A= ENSP00000220676.1:p.Lys1313=
NM_006269.1:c.3938A= NP_006260.1:p.Lys1313=
XM_017013721.1:c.3959A= XP_016869210.1:p.Lys1320=
XM_017013722.1:c.3938A= XP_016869211.1:p.Lys1313=
NM_001375654.1:c.787+5532A= NP_001362583.1:n.787+5532A=
NM_006269.2:c.3938A= MANE Select NP_006260.1:p.Lys1313=