Canonical Allele Identifier: CA1785188158

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626096T= , CM000670.2:g.54626096T=	GRCh38
NC_000008.10:g.55538656T= , CM000670.1:g.55538656T=	GRCh37
NC_000008.9:g.55701209T=	NCBI36
NG_009840.1:g.15030T=
NG_009840.2:g.15030T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2214T= MANE Select	ENSP00000220676.1:p.Ile738=
ENST00000636932.1:c.787+3808T=	ENSP00000489857.1:n.787+3808T=
ENST00000637698.1:c.787+3808T=	ENSP00000490104.1:n.787+3808T=
ENST00000220676.1:c.2214T=	ENSP00000220676.1:p.Ile738=
NM_006269.1:c.2214T=	NP_006260.1:p.Ile738=
XM_017013721.1:c.2235T=	XP_016869210.1:p.Ile745=
XM_017013722.1:c.2214T=	XP_016869211.1:p.Ile738=
NM_001375654.1:c.787+3808T=	NP_001362583.1:n.787+3808T=
NM_006269.2:c.2214T= MANE Select	NP_006260.1:p.Ile738=