Canonical Allele Identifier: CA177237769

Gene: RP1

Linked Data

• dbSNP Id: rs35425471
• MyVariant Identifiers: chr8:g.55540266_55540267insC (hg19) ; chr8:g.54627706_54627707insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627710dup , CM000670.2:g.54627710dup	GRCh38
NC_000008.10:g.55540270dup , CM000670.1:g.55540270dup	GRCh37
NC_000008.9:g.55702823dup	NCBI36
NG_009840.1:g.16644dup
NG_009840.2:g.16644dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3828dup MANE Select	ENSP00000220676.1:p.Ser1277GlnfsTer2
ENST00000636932.1:c.787+5422dup	ENSP00000489857.1:n.787+5422dup
ENST00000637698.1:c.787+5422dup	ENSP00000490104.1:n.787+5422dup
ENST00000220676.1:c.3828dup	ENSP00000220676.1:p.Ser1277GlnfsTer2
NM_006269.1:c.3828dup	NP_006260.1:p.Ser1277GlnfsTer2
XM_017013721.1:c.3849dup	XP_016869210.1:p.Ser1284GlnfsTer2
XM_017013722.1:c.3828dup	XP_016869211.1:p.Ser1277GlnfsTer2
NM_001375654.1:c.787+5422dup	NP_001362583.1:n.787+5422dup
NM_006269.2:c.3828dup MANE Select	NP_006260.1:p.Ser1277GlnfsTer2