Canonical Allele Identifier: CA1785189052

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628144A= , CM000670.2:g.54628144A=	GRCh38
NC_000008.10:g.55540704A= , CM000670.1:g.55540704A=	GRCh37
NC_000008.9:g.55703257A=	NCBI36
NG_009840.1:g.17078A=
NG_009840.2:g.17078A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4262A= MANE Select	ENSP00000220676.1:p.Glu1421=
ENST00000636932.1:c.787+5856A=	ENSP00000489857.1:n.787+5856A=
ENST00000637698.1:c.787+5856A=	ENSP00000490104.1:n.787+5856A=
ENST00000220676.1:c.4262A=	ENSP00000220676.1:p.Glu1421=
NM_006269.1:c.4262A=	NP_006260.1:p.Glu1421=
XM_017013721.1:c.4283A=	XP_016869210.1:p.Glu1428=
XM_017013722.1:c.4262A=	XP_016869211.1:p.Glu1421=
NM_001375654.1:c.787+5856A=	NP_001362583.1:n.787+5856A=
NM_006269.2:c.4262A= MANE Select	NP_006260.1:p.Glu1421=