Canonical Allele Identifier: CA245308

Gene: RP1

Linked Data

• ClinVar Variation Id: 197270
• ClinVar RCV Id: RCV000178261 ; RCV001165450 ; RCV003133163
• dbSNP Id: rs149282954
• ExAC: 8:55542638 G / A
• gnomAD v2: 8-55542638-G-A
• gnomAD v3: 8-54630078-G-A
• gnomAD v4: 8-54630078-G-A
• COSMIC: COSM192201
• MyVariant Identifiers: chr8:g.55542638G>A (hg19) ; chr8:g.54630078G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54630078G>A , CM000670.2:g.54630078G>A	GRCh38
NC_000008.10:g.55542638G>A , CM000670.1:g.55542638G>A	GRCh37
NC_000008.9:g.55705191G>A	NCBI36
NG_009840.1:g.19012G>A
NG_009840.2:g.19012G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.6196G>A MANE Select	ENSP00000220676.1:p.Asp2066Asn
ENST00000636932.1:c.787+7790G>A	ENSP00000489857.1:n.787+7790G>A
ENST00000637698.1:c.787+7790G>A	ENSP00000490104.1:n.787+7790G>A
ENST00000220676.1:c.6196G>A	ENSP00000220676.1:p.Asp2066Asn
NM_006269.1:c.6196G>A	NP_006260.1:p.Asp2066Asn
XM_017013721.1:c.6217G>A	XP_016869210.1:p.Asp2073Asn
XM_017013722.1:c.6196G>A	XP_016869211.1:p.Asp2066Asn
NM_001375654.1:c.787+7790G>A	NP_001362583.1:n.787+7790G>A
NM_006269.2:c.6196G>A MANE Select	NP_006260.1:p.Asp2066Asn