Canonical Allele Identifier: CA148463
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 95352
dbSNP Id: rs446227
gnomAD v2: 8-55541450-G-A
gnomAD v3: 8-54628890-G-A
gnomAD v4: 8-54628890-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54628890G>A , CM000670.2:g.54628890G>A GRCh38
NC_000008.10:g.55541450G>A , CM000670.1:g.55541450G>A GRCh37
NC_000008.9:g.55704003G>A NCBI36
NG_009840.1:g.17824G>A
NG_009840.2:g.17824G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.5008G>A MANE Select ENSP00000220676.1:p.Ala1670Thr
ENST00000636932.1:c.787+6602G>A ENSP00000489857.1:n.787+6602G>A
ENST00000637698.1:c.787+6602G>A ENSP00000490104.1:n.787+6602G>A
ENST00000220676.1:c.5008G>A ENSP00000220676.1:p.Ala1670Thr
NM_006269.1:c.5008G>A NP_006260.1:p.Ala1670Thr
XM_017013721.1:c.5029G>A XP_016869210.1:p.Ala1677Thr
XM_017013722.1:c.5008G>A XP_016869211.1:p.Ala1670Thr
NM_001375654.1:c.787+6602G>A NP_001362583.1:n.787+6602G>A
NM_006269.2:c.5008G>A MANE Select NP_006260.1:p.Ala1670Thr