Canonical Allele Identifier: CA1785187665

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54624911G= , CM000670.2:g.54624911G=	GRCh38
NC_000008.10:g.55537471G= , CM000670.1:g.55537471G=	GRCh37
NC_000008.9:g.55700024G=	NCBI36
NG_009840.1:g.13845G=
NG_009840.2:g.13845G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000220676.2:c.1029G= MANE Select	ENSP00000220676.1:p.Glu343=
ENST00000636932.1:c.787+2623G=	ENSP00000489857.1:n.787+2623G=
ENST00000637698.1:c.787+2623G=	ENSP00000490104.1:n.787+2623G=
ENST00000220676.1:c.1029G=	ENSP00000220676.1:p.Glu343=
NM_006269.1:c.1029G=	NP_006260.1:p.Glu343=
XM_017013721.1:c.1050G=	XP_016869210.1:p.Glu350=
XM_017013722.1:c.1029G=	XP_016869211.1:p.Glu343=
NM_001375654.1:c.787+2623G=	NP_001362583.1:n.787+2623G=
NM_006269.2:c.1029G= MANE Select	NP_006260.1:p.Glu343=