Canonical Allele Identifier: CA1785187667

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54624914A= , CM000670.2:g.54624914A=	GRCh38
NC_000008.10:g.55537474A= , CM000670.1:g.55537474A=	GRCh37
NC_000008.9:g.55700027A=	NCBI36
NG_009840.1:g.13848A=
NG_009840.2:g.13848A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000220676.2:c.1032A= MANE Select	ENSP00000220676.1:p.Glu344=
ENST00000636932.1:c.787+2626A=	ENSP00000489857.1:n.787+2626A=
ENST00000637698.1:c.787+2626A=	ENSP00000490104.1:n.787+2626A=
ENST00000220676.1:c.1032A=	ENSP00000220676.1:p.Glu344=
NM_006269.1:c.1032A=	NP_006260.1:p.Glu344=
XM_017013721.1:c.1053A=	XP_016869210.1:p.Glu351=
XM_017013722.1:c.1032A=	XP_016869211.1:p.Glu344=
NM_001375654.1:c.787+2626A=	NP_001362583.1:n.787+2626A=
NM_006269.2:c.1032A= MANE Select	NP_006260.1:p.Glu344=