Canonical Allele Identifier: CA4751821

Gene: RP1

Linked Data

• dbSNP Id: rs746945783
• ExAC: 8:55540665 C / A
• gnomAD v2: 8-55540665-C-A
• gnomAD v4: 8-54628105-C-A
• MyVariant Identifiers: chr8:g.55540665C>A (hg19) ; chr8:g.54628105C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628105C>A , CM000670.2:g.54628105C>A	GRCh38
NC_000008.10:g.55540665C>A , CM000670.1:g.55540665C>A	GRCh37
NC_000008.9:g.55703218C>A	NCBI36
NG_009840.1:g.17039C>A
NG_009840.2:g.17039C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4223C>A MANE Select	ENSP00000220676.1:p.Ala1408Glu
ENST00000636932.1:c.787+5817C>A	ENSP00000489857.1:n.787+5817C>A
ENST00000637698.1:c.787+5817C>A	ENSP00000490104.1:n.787+5817C>A
ENST00000220676.1:c.4223C>A	ENSP00000220676.1:p.Ala1408Glu
NM_006269.1:c.4223C>A	NP_006260.1:p.Ala1408Glu
XM_017013721.1:c.4244C>A	XP_016869210.1:p.Ala1415Glu
XM_017013722.1:c.4223C>A	XP_016869211.1:p.Ala1408Glu
NM_001375654.1:c.787+5817C>A	NP_001362583.1:n.787+5817C>A
NM_006269.2:c.4223C>A MANE Select	NP_006260.1:p.Ala1408Glu