Canonical Allele Identifier: CA370992425

Gene: RP1

Linked Data

• ClinVar Variation Id: 2741787
• ClinVar RCV Id: RCV003555785
• dbSNP Id: rs1554519518
• MyVariant Identifiers: chr8:g.55538401del (hg19) ; chr8:g.54625842del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54625843del , CM000670.2:g.54625843del	GRCh38
NC_000008.10:g.55538403del , CM000670.1:g.55538403del	GRCh37
NC_000008.9:g.55700956del	NCBI36
NG_009840.1:g.14777del
NG_009840.2:g.14777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.1961del MANE Select	ENSP00000220676.1:p.Leu654Ter
ENST00000636932.1:c.787+3555del	ENSP00000489857.1:n.787+3555del
ENST00000637698.1:c.787+3555del	ENSP00000490104.1:n.787+3555del
ENST00000220676.1:c.1961del	ENSP00000220676.1:p.Leu654Ter
NM_006269.1:c.1961del	NP_006260.1:p.Leu654Ter
XM_017013721.1:c.1982del	XP_016869210.1:p.Leu661Ter
XM_017013722.1:c.1961del	XP_016869211.1:p.Leu654Ter
NM_001375654.1:c.787+3555del	NP_001362583.1:n.787+3555del
NM_006269.2:c.1961del MANE Select	NP_006260.1:p.Leu654Ter