Canonical Allele Identifier: CA1785189025

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628082C= , CM000670.2:g.54628082C=	GRCh38
NC_000008.10:g.55540642C= , CM000670.1:g.55540642C=	GRCh37
NC_000008.9:g.55703195C=	NCBI36
NG_009840.1:g.17016C=
NG_009840.2:g.17016C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000220676.2:c.4200C= MANE Select	ENSP00000220676.1:p.Gly1400=
ENST00000636932.1:c.787+5794C=	ENSP00000489857.1:n.787+5794C=
ENST00000637698.1:c.787+5794C=	ENSP00000490104.1:n.787+5794C=
ENST00000220676.1:c.4200C=	ENSP00000220676.1:p.Gly1400=
NM_006269.1:c.4200C=	NP_006260.1:p.Gly1400=
XM_017013721.1:c.4221C=	XP_016869210.1:p.Gly1407=
XM_017013722.1:c.4200C=	XP_016869211.1:p.Gly1400=
NM_001375654.1:c.787+5794C=	NP_001362583.1:n.787+5794C=
NM_006269.2:c.4200C= MANE Select	NP_006260.1:p.Gly1400=