Canonical Allele Identifier: CA1785187663

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54624904T= , CM000670.2:g.54624904T=	GRCh38
NC_000008.10:g.55537464T= , CM000670.1:g.55537464T=	GRCh37
NC_000008.9:g.55700017T=	NCBI36
NG_009840.1:g.13838T=
NG_009840.2:g.13838T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000220676.2:c.1022T= MANE Select	ENSP00000220676.1:p.Ile341=
ENST00000636932.1:c.787+2616T=	ENSP00000489857.1:n.787+2616T=
ENST00000637698.1:c.787+2616T=	ENSP00000490104.1:n.787+2616T=
ENST00000220676.1:c.1022T=	ENSP00000220676.1:p.Ile341=
NM_006269.1:c.1022T=	NP_006260.1:p.Ile341=
XM_017013721.1:c.1043T=	XP_016869210.1:p.Ile348=
XM_017013722.1:c.1022T=	XP_016869211.1:p.Ile341=
NM_001375654.1:c.787+2616T=	NP_001362583.1:n.787+2616T=
NM_006269.2:c.1022T= MANE Select	NP_006260.1:p.Ile341=