Canonical Allele Identifier: CA4751795
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1547441
ClinVar RCV Id: RCV002173432
dbSNP Id: rs780936508
ExAC: 8:55540519 T / G
gnomAD v2: 8-55540519-T-G
gnomAD v4: 8-54627959-T-G
COSMIC: COSM3900703
MyVariant Identifiers: chr8:g.55540519T>G (hg19) chr8:g.54627959T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54627959T>G , CM000670.2:g.54627959T>G GRCh38
NC_000008.10:g.55540519T>G , CM000670.1:g.55540519T>G GRCh37
NC_000008.9:g.55703072T>G NCBI36
NG_009840.1:g.16893T>G
NG_009840.2:g.16893T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.4077T>G MANE Select ENSP00000220676.1:p.Thr1359=
ENST00000636932.1:c.787+5671T>G ENSP00000489857.1:n.787+5671T>G
ENST00000637698.1:c.787+5671T>G ENSP00000490104.1:n.787+5671T>G
ENST00000220676.1:c.4077T>G ENSP00000220676.1:p.Thr1359=
NM_006269.1:c.4077T>G NP_006260.1:p.Thr1359=
XM_017013721.1:c.4098T>G XP_016869210.1:p.Thr1366=
XM_017013722.1:c.4077T>G XP_016869211.1:p.Thr1359=
NM_001375654.1:c.787+5671T>G NP_001362583.1:n.787+5671T>G
NM_006269.2:c.4077T>G MANE Select NP_006260.1:p.Thr1359=
Search 100 bp 5'
Search 100 bp 3'