Canonical Allele Identifier: CA4751841
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1387770
ClinVar RCV Id: RCV001884224 RCV004039045
dbSNP Id: rs376134297
ExAC: 8:55540749 C / T
gnomAD v2: 8-55540749-C-T
gnomAD v3: 8-54628189-C-T
gnomAD v4: 8-54628189-C-T
COSMIC: COSM1700104
MyVariant Identifiers: chr8:g.55540749C>T (hg19) chr8:g.54628189C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54628189C>T , CM000670.2:g.54628189C>T GRCh38
NC_000008.10:g.55540749C>T , CM000670.1:g.55540749C>T GRCh37
NC_000008.9:g.55703302C>T NCBI36
NG_009840.1:g.17123C>T
NG_009840.2:g.17123C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.4307C>T MANE Select ENSP00000220676.1:p.Ser1436Phe
ENST00000636932.1:c.787+5901C>T ENSP00000489857.1:n.787+5901C>T
ENST00000637698.1:c.787+5901C>T ENSP00000490104.1:n.787+5901C>T
ENST00000220676.1:c.4307C>T ENSP00000220676.1:p.Ser1436Phe
NM_006269.1:c.4307C>T NP_006260.1:p.Ser1436Phe
XM_017013721.1:c.4328C>T XP_016869210.1:p.Ser1443Phe
XM_017013722.1:c.4307C>T XP_016869211.1:p.Ser1436Phe
NM_001375654.1:c.787+5901C>T NP_001362583.1:n.787+5901C>T
NM_006269.2:c.4307C>T MANE Select NP_006260.1:p.Ser1436Phe
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