Canonical Allele Identifier: CA1785189047

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628132T= , CM000670.2:g.54628132T=	GRCh38
NC_000008.10:g.55540692T= , CM000670.1:g.55540692T=	GRCh37
NC_000008.9:g.55703245T=	NCBI36
NG_009840.1:g.17066T=
NG_009840.2:g.17066T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4250T= MANE Select	ENSP00000220676.1:p.Leu1417=
ENST00000636932.1:c.787+5844T=	ENSP00000489857.1:n.787+5844T=
ENST00000637698.1:c.787+5844T=	ENSP00000490104.1:n.787+5844T=
ENST00000220676.1:c.4250T=	ENSP00000220676.1:p.Leu1417=
NM_006269.1:c.4250T=	NP_006260.1:p.Leu1417=
XM_017013721.1:c.4271T=	XP_016869210.1:p.Leu1424=
XM_017013722.1:c.4250T=	XP_016869211.1:p.Leu1417=
NM_001375654.1:c.787+5844T=	NP_001362583.1:n.787+5844T=
NM_006269.2:c.4250T= MANE Select	NP_006260.1:p.Leu1417=