Canonical Allele Identifier: CA4751829
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 912236
ClinVar RCV Id: RCV001165331 RCV001357149 RCV003953553
dbSNP Id: rs139294220
ExAC: 8:55540692 T / C
gnomAD v2: 8-55540692-T-C
gnomAD v3: 8-54628132-T-C
gnomAD v4: 8-54628132-T-C
MyVariant Identifiers: chr8:g.55540692T>C (hg19) chr8:g.54628132T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54628132T>C , CM000670.2:g.54628132T>C GRCh38
NC_000008.10:g.55540692T>C , CM000670.1:g.55540692T>C GRCh37
NC_000008.9:g.55703245T>C NCBI36
NG_009840.1:g.17066T>C
NG_009840.2:g.17066T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.4250T>C MANE Select ENSP00000220676.1:p.Leu1417Pro
ENST00000636932.1:c.787+5844T>C ENSP00000489857.1:n.787+5844T>C
ENST00000637698.1:c.787+5844T>C ENSP00000490104.1:n.787+5844T>C
ENST00000220676.1:c.4250T>C ENSP00000220676.1:p.Leu1417Pro
NM_006269.1:c.4250T>C NP_006260.1:p.Leu1417Pro
XM_017013721.1:c.4271T>C XP_016869210.1:p.Leu1424Pro
XM_017013722.1:c.4250T>C XP_016869211.1:p.Leu1417Pro
NM_001375654.1:c.787+5844T>C NP_001362583.1:n.787+5844T>C
NM_006269.2:c.4250T>C MANE Select NP_006260.1:p.Leu1417Pro
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