Canonical Allele Identifier: CA177237187

Gene: RP1

Linked Data

• dbSNP Id: rs34080887
• MyVariant Identifiers: chr8:g.55538899_55538900insT (hg19) ; chr8:g.54626339_54626340insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626342dup , CM000670.2:g.54626342dup	GRCh38
NC_000008.10:g.55538902dup , CM000670.1:g.55538902dup	GRCh37
NC_000008.9:g.55701455dup	NCBI36
NG_009840.1:g.15276dup
NG_009840.2:g.15276dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2460dup MANE Select	ENSP00000220676.1:p.His821SerfsTer4
ENST00000636932.1:c.787+4054dup	ENSP00000489857.1:n.787+4054dup
ENST00000637698.1:c.787+4054dup	ENSP00000490104.1:n.787+4054dup
ENST00000220676.1:c.2460dup	ENSP00000220676.1:p.His821SerfsTer4
NM_006269.1:c.2460dup	NP_006260.1:p.His821SerfsTer4
XM_017013721.1:c.2481dup	XP_016869210.1:p.His828SerfsTer4
XM_017013722.1:c.2460dup	XP_016869211.1:p.His821SerfsTer4
NM_001375654.1:c.787+4054dup	NP_001362583.1:n.787+4054dup
NM_006269.2:c.2460dup MANE Select	NP_006260.1:p.His821SerfsTer4