Canonical Allele Identifier: CA4751740

Gene: RP1

Linked Data

• dbSNP Id: rs752345458
• ExAC: 8:55540190 T / C
• gnomAD v2: 8-55540190-T-C
• gnomAD v4: 8-54627630-T-C
• MyVariant Identifiers: chr8:g.55540190T>C (hg19) ; chr8:g.54627630T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627630T>C , CM000670.2:g.54627630T>C	GRCh38
NC_000008.10:g.55540190T>C , CM000670.1:g.55540190T>C	GRCh37
NC_000008.9:g.55702743T>C	NCBI36
NG_009840.1:g.16564T>C
NG_009840.2:g.16564T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3748T>C MANE Select	ENSP00000220676.1:p.Cys1250Arg
ENST00000636932.1:c.787+5342T>C	ENSP00000489857.1:n.787+5342T>C
ENST00000637698.1:c.787+5342T>C	ENSP00000490104.1:n.787+5342T>C
ENST00000220676.1:c.3748T>C	ENSP00000220676.1:p.Cys1250Arg
NM_006269.1:c.3748T>C	NP_006260.1:p.Cys1250Arg
XM_017013721.1:c.3769T>C	XP_016869210.1:p.Cys1257Arg
XM_017013722.1:c.3748T>C	XP_016869211.1:p.Cys1250Arg
NM_001375654.1:c.787+5342T>C	NP_001362583.1:n.787+5342T>C
NM_006269.2:c.3748T>C MANE Select	NP_006260.1:p.Cys1250Arg