Canonical Allele Identifier: CA177237746
Gene: RP1 HGNC NCBI

Linked Data

dbSNP Id: rs943454310
gnomAD v3: 8-54627662-G-C
gnomAD v4: 8-54627662-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54627662G>C , CM000670.2:g.54627662G>C GRCh38
NC_000008.10:g.55540222G>C , CM000670.1:g.55540222G>C GRCh37
NC_000008.9:g.55702775G>C NCBI36
NG_009840.1:g.16596G>C
NG_009840.2:g.16596G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.3780G>C MANE Select ENSP00000220676.1:p.Glu1260Asp
ENST00000636932.1:c.787+5374G>C ENSP00000489857.1:n.787+5374G>C
ENST00000637698.1:c.787+5374G>C ENSP00000490104.1:n.787+5374G>C
ENST00000220676.1:c.3780G>C ENSP00000220676.1:p.Glu1260Asp
NM_006269.1:c.3780G>C NP_006260.1:p.Glu1260Asp
XM_017013721.1:c.3801G>C XP_016869210.1:p.Glu1267Asp
XM_017013722.1:c.3780G>C XP_016869211.1:p.Glu1260Asp
NM_001375654.1:c.787+5374G>C NP_001362583.1:n.787+5374G>C
NM_006269.2:c.3780G>C MANE Select NP_006260.1:p.Glu1260Asp