Canonical Allele Identifier: CA370997203
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2823040
ClinVar RCV Id: RCV003714367

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54627638G>T , CM000670.2:g.54627638G>T GRCh38
NC_000008.10:g.55540198G>T , CM000670.1:g.55540198G>T GRCh37
NC_000008.9:g.55702751G>T NCBI36
NG_009840.1:g.16572G>T
NG_009840.2:g.16572G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.3756G>T MANE Select ENSP00000220676.1:p.Leu1252Phe
ENST00000636932.1:c.787+5350G>T ENSP00000489857.1:n.787+5350G>T
ENST00000637698.1:c.787+5350G>T ENSP00000490104.1:n.787+5350G>T
ENST00000220676.1:c.3756G>T ENSP00000220676.1:p.Leu1252Phe
NM_006269.1:c.3756G>T NP_006260.1:p.Leu1252Phe
XM_017013721.1:c.3777G>T XP_016869210.1:p.Leu1259Phe
XM_017013722.1:c.3756G>T XP_016869211.1:p.Leu1252Phe
NM_001375654.1:c.787+5350G>T NP_001362583.1:n.787+5350G>T
NM_006269.2:c.3756G>T MANE Select NP_006260.1:p.Leu1252Phe