Canonical Allele Identifier: CA4751820

Gene: RP1

Linked Data

• ClinVar Variation Id: 1385034
• ClinVar RCV Id: RCV001902761
• dbSNP Id: rs562213663
• ExAC: 8:55540658 A / G
• gnomAD v2: 8-55540658-A-G
• gnomAD v3: 8-54628098-A-G
• gnomAD v4: 8-54628098-A-G
• MyVariant Identifiers: chr8:g.55540658A>G (hg19) ; chr8:g.54628098A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628098A>G , CM000670.2:g.54628098A>G	GRCh38
NC_000008.10:g.55540658A>G , CM000670.1:g.55540658A>G	GRCh37
NC_000008.9:g.55703211A>G	NCBI36
NG_009840.1:g.17032A>G
NG_009840.2:g.17032A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4216A>G MANE Select	ENSP00000220676.1:p.Lys1406Glu
ENST00000636932.1:c.787+5810A>G	ENSP00000489857.1:n.787+5810A>G
ENST00000637698.1:c.787+5810A>G	ENSP00000490104.1:n.787+5810A>G
ENST00000220676.1:c.4216A>G	ENSP00000220676.1:p.Lys1406Glu
NM_006269.1:c.4216A>G	NP_006260.1:p.Lys1406Glu
XM_017013721.1:c.4237A>G	XP_016869210.1:p.Lys1413Glu
XM_017013722.1:c.4216A>G	XP_016869211.1:p.Lys1406Glu
NM_001375654.1:c.787+5810A>G	NP_001362583.1:n.787+5810A>G
NM_006269.2:c.4216A>G MANE Select	NP_006260.1:p.Lys1406Glu