Canonical Allele Identifier: CA2573143217

Gene: RP1

Linked Data

• ClinVar Variation Id: 1455605
• ClinVar RCV Id: RCV001958662
• dbSNP Id: rs2129316318

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54625728dup , CM000670.2:g.54625728dup	GRCh38
NC_000008.10:g.55538288dup , CM000670.1:g.55538288dup	GRCh37
NC_000008.9:g.55700841dup	NCBI36
NG_009840.1:g.14662dup
NG_009840.2:g.14662dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.1846dup MANE Select	ENSP00000220676.1:p.Ser616PhefsTer3
ENST00000636932.1:c.787+3440dup	ENSP00000489857.1:n.787+3440dup
ENST00000637698.1:c.787+3440dup	ENSP00000490104.1:n.787+3440dup
ENST00000220676.1:c.1846dup	ENSP00000220676.1:p.Ser616PhefsTer3
NM_006269.1:c.1846dup	NP_006260.1:p.Ser616PhefsTer3
XM_017013721.1:c.1867dup	XP_016869210.1:p.Ser623PhefsTer3
XM_017013722.1:c.1846dup	XP_016869211.1:p.Ser616PhefsTer3
NM_001375654.1:c.787+3440dup	NP_001362583.1:n.787+3440dup
NM_006269.2:c.1846dup MANE Select	NP_006260.1:p.Ser616PhefsTer3