Canonical Allele Identifier: CA1785188864

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627720T= , CM000670.2:g.54627720T=	GRCh38
NC_000008.10:g.55540280T= , CM000670.1:g.55540280T=	GRCh37
NC_000008.9:g.55702833T=	NCBI36
NG_009840.1:g.16654T=
NG_009840.2:g.16654T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3838T= MANE Select	ENSP00000220676.1:p.Phe1280=
ENST00000636932.1:c.787+5432T=	ENSP00000489857.1:n.787+5432T=
ENST00000637698.1:c.787+5432T=	ENSP00000490104.1:n.787+5432T=
ENST00000220676.1:c.3838T=	ENSP00000220676.1:p.Phe1280=
NM_006269.1:c.3838T=	NP_006260.1:p.Phe1280=
XM_017013721.1:c.3859T=	XP_016869210.1:p.Phe1287=
XM_017013722.1:c.3838T=	XP_016869211.1:p.Phe1280=
NM_001375654.1:c.787+5432T=	NP_001362583.1:n.787+5432T=
NM_006269.2:c.3838T= MANE Select	NP_006260.1:p.Phe1280=