Canonical Allele Identifier: CA4751781
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 363295
ClinVar RCV Id: RCV000367400
dbSNP Id: rs754606635
ExAC: 8:55540410 A / G
gnomAD v2: 8-55540410-A-G
gnomAD v4: 8-54627850-A-G
MyVariant Identifiers: chr8:g.55540410A>G (hg19) chr8:g.54627850A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54627850A>G , CM000670.2:g.54627850A>G GRCh38
NC_000008.10:g.55540410A>G , CM000670.1:g.55540410A>G GRCh37
NC_000008.9:g.55702963A>G NCBI36
NG_009840.1:g.16784A>G
NG_009840.2:g.16784A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.3968A>G MANE Select ENSP00000220676.1:p.Tyr1323Cys
ENST00000636932.1:c.787+5562A>G ENSP00000489857.1:n.787+5562A>G
ENST00000637698.1:c.787+5562A>G ENSP00000490104.1:n.787+5562A>G
ENST00000220676.1:c.3968A>G ENSP00000220676.1:p.Tyr1323Cys
NM_006269.1:c.3968A>G NP_006260.1:p.Tyr1323Cys
XM_017013721.1:c.3989A>G XP_016869210.1:p.Tyr1330Cys
XM_017013722.1:c.3968A>G XP_016869211.1:p.Tyr1323Cys
NM_001375654.1:c.787+5562A>G NP_001362583.1:n.787+5562A>G
NM_006269.2:c.3968A>G MANE Select NP_006260.1:p.Tyr1323Cys
Search 100 bp 5'
Search 100 bp 3'