Canonical Allele Identifier: CA4751548

Gene: RP1

Linked Data

• ClinVar Variation Id: 2172292
• ClinVar RCV Id: RCV003087349
• dbSNP Id: rs374856454
• ExAC: 8:55538939 T / C
• gnomAD v2: 8-55538939-T-C
• gnomAD v4: 8-54626379-T-C
• MyVariant Identifiers: chr8:g.55538939T>C (hg19) ; chr8:g.54626379T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626379T>C , CM000670.2:g.54626379T>C	GRCh38
NC_000008.10:g.55538939T>C , CM000670.1:g.55538939T>C	GRCh37
NC_000008.9:g.55701492T>C	NCBI36
NG_009840.1:g.15313T>C
NG_009840.2:g.15313T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2497T>C MANE Select	ENSP00000220676.1:p.Phe833Leu
ENST00000636932.1:c.787+4091T>C	ENSP00000489857.1:n.787+4091T>C
ENST00000637698.1:c.787+4091T>C	ENSP00000490104.1:n.787+4091T>C
ENST00000220676.1:c.2497T>C	ENSP00000220676.1:p.Phe833Leu
NM_006269.1:c.2497T>C	NP_006260.1:p.Phe833Leu
XM_017013721.1:c.2518T>C	XP_016869210.1:p.Phe840Leu
XM_017013722.1:c.2497T>C	XP_016869211.1:p.Phe833Leu
NM_001375654.1:c.787+4091T>C	NP_001362583.1:n.787+4091T>C
NM_006269.2:c.2497T>C MANE Select	NP_006260.1:p.Phe833Leu