Canonical Allele Identifier: CA4751763
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2002066
ClinVar RCV Id: RCV002832895
dbSNP Id: rs750322665
ExAC: 8:55540332 G / A
gnomAD v2: 8-55540332-G-A
gnomAD v4: 8-54627772-G-A
MyVariant Identifiers: chr8:g.55540332G>A (hg19) chr8:g.55540332_55540333delinsAT (hg19) chr8:g.54627772G>A (hg38) chr8:g.54627772_54627773delinsAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54627772G>A , CM000670.2:g.54627772G>A GRCh38
NC_000008.10:g.55540332G>A , CM000670.1:g.55540332G>A GRCh37
NC_000008.9:g.55702885G>A NCBI36
NG_009840.1:g.16706G>A
NG_009840.2:g.16706G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.3890G>A MANE Select ENSP00000220676.1:p.Cys1297Tyr
ENST00000636932.1:c.787+5484G>A ENSP00000489857.1:n.787+5484G>A
ENST00000637698.1:c.787+5484G>A ENSP00000490104.1:n.787+5484G>A
ENST00000220676.1:c.3890G>A ENSP00000220676.1:p.Cys1297Tyr
NM_006269.1:c.3890G>A NP_006260.1:p.Cys1297Tyr
XM_017013721.1:c.3911G>A XP_016869210.1:p.Cys1304Tyr
XM_017013722.1:c.3890G>A XP_016869211.1:p.Cys1297Tyr
NM_001375654.1:c.787+5484G>A NP_001362583.1:n.787+5484G>A
NM_006269.2:c.3890G>A MANE Select NP_006260.1:p.Cys1297Tyr
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