Canonical Allele Identifier: CA4751683

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627278G>A , CM000670.2:g.54627278G>A	GRCh38
NC_000008.10:g.55539838G>A , CM000670.1:g.55539838G>A	GRCh37
NC_000008.9:g.55702391G>A	NCBI36
NG_009840.1:g.16212G>A
NG_009840.2:g.16212G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006269.2:c.3396G>A MANE Select	NP_006260.1:p.Trp1132Ter
ENST00000220676.2:c.3396G>A MANE Select	ENSP00000220676.1:p.Trp1132Ter
NM_001375654.1:c.787+4990G>A	NP_001362583.1:n.787+4990G>A
NM_006269.1:c.3396G>A	NP_006260.1:p.Trp1132Ter
ENST00000220676.1:c.3396G>A	ENSP00000220676.1:p.Trp1132Ter
ENST00000636932.1:c.787+4990G>A	ENSP00000489857.1:n.787+4990G>A
ENST00000637698.1:c.787+4990G>A	ENSP00000490104.1:n.787+4990G>A
XM_017013721.1:c.3417G>A	XP_016869210.1:p.Trp1139Ter
XM_017013722.1:c.3396G>A	XP_016869211.1:p.Trp1132Ter