Canonical Allele Identifier: CA4751389

Gene: RP1

Linked Data

• ClinVar Variation Id: 437947
• ClinVar RCV Id: RCV000504978 ; RCV001376315
• dbSNP Id: rs765129639
• ExAC: 8:55537939 CAT / C
• gnomAD v2: 8-55537939-CAT-C
• gnomAD v3: 8-54625379-CAT-C
• gnomAD v4: 8-54625379-CAT-C
• MyVariant Identifiers: chr8:g.55537940_55537941del (hg19) ; chr8:g.54625380_54625381del (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54625380_54625381del , CM000670.2:g.54625380_54625381del	GRCh38
NC_000008.10:g.55537940_55537941del , CM000670.1:g.55537940_55537941del	GRCh37
NC_000008.9:g.55700493_55700494del	NCBI36
NG_009840.1:g.14314_14315del
NG_009840.2:g.14314_14315del

Transcript Alleles

HGVS	Amino-acid change
ENST00000220676.2:c.1498_1499del MANE Select	ENSP00000220676.1:p.Met500ValfsTer7
ENST00000636932.1:c.787+3092_787+3093del	ENSP00000489857.1:n.787+3092_787+3093del
ENST00000637698.1:c.787+3092_787+3093del	ENSP00000490104.1:n.787+3092_787+3093del
ENST00000220676.1:c.1498_1499del	ENSP00000220676.1:p.Met500ValfsTer7
NM_006269.1:c.1498_1499del	NP_006260.1:p.Met500ValfsTer7
XM_017013721.1:c.1519_1520del	XP_016869210.1:p.Met507ValfsTer7
XM_017013722.1:c.1498_1499del	XP_016869211.1:p.Met500ValfsTer7
NM_001375654.1:c.787+3092_787+3093del	NP_001362583.1:n.787+3092_787+3093del
NM_006269.2:c.1498_1499del MANE Select	NP_006260.1:p.Met500ValfsTer7