Canonical Allele Identifier: CA4751749
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2981160
ClinVar RCV Id: RCV003832302
dbSNP Id: rs748359417
gnomAD v2: 8-55540242-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54627682C>A , CM000670.2:g.54627682C>A GRCh38
NC_000008.10:g.55540242C>A , CM000670.1:g.55540242C>A GRCh37
NC_000008.9:g.55702795C>A NCBI36
NG_009840.1:g.16616C>A
NG_009840.2:g.16616C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.3800C>A MANE Select ENSP00000220676.1:p.Ala1267Asp
ENST00000636932.1:c.787+5394C>A ENSP00000489857.1:n.787+5394C>A
ENST00000637698.1:c.787+5394C>A ENSP00000490104.1:n.787+5394C>A
ENST00000220676.1:c.3800C>A ENSP00000220676.1:p.Ala1267Asp
NM_006269.1:c.3800C>A NP_006260.1:p.Ala1267Asp
XM_017013721.1:c.3821C>A XP_016869210.1:p.Ala1274Asp
XM_017013722.1:c.3800C>A XP_016869211.1:p.Ala1267Asp
NM_001375654.1:c.787+5394C>A NP_001362583.1:n.787+5394C>A
NM_006269.2:c.3800C>A MANE Select NP_006260.1:p.Ala1267Asp