Canonical Allele Identifier: CA370989105

Gene: RP1

Linked Data

• ClinVar Variation Id: 2789266
• ClinVar RCV Id: RCV003666763
• dbSNP Id: rs1466310345
• gnomAD v2: 8-55537461-G-C
• gnomAD v3: 8-54624901-G-C
• gnomAD v4: 8-54624901-G-C
• MyVariant Identifiers: chr8:g.55537461G>C (hg19) ; chr8:g.54624901G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54624901G>C , CM000670.2:g.54624901G>C	GRCh38
NC_000008.10:g.55537461G>C , CM000670.1:g.55537461G>C	GRCh37
NC_000008.9:g.55700014G>C	NCBI36
NG_009840.1:g.13835G>C
NG_009840.2:g.13835G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000220676.2:c.1019G>C MANE Select	ENSP00000220676.1:p.Arg340Thr
ENST00000636932.1:c.787+2613G>C	ENSP00000489857.1:n.787+2613G>C
ENST00000637698.1:c.787+2613G>C	ENSP00000490104.1:n.787+2613G>C
ENST00000220676.1:c.1019G>C	ENSP00000220676.1:p.Arg340Thr
NM_006269.1:c.1019G>C	NP_006260.1:p.Arg340Thr
XM_017013721.1:c.1040G>C	XP_016869210.1:p.Arg347Thr
XM_017013722.1:c.1019G>C	XP_016869211.1:p.Arg340Thr
NM_001375654.1:c.787+2613G>C	NP_001362583.1:n.787+2613G>C
NM_006269.2:c.1019G>C MANE Select	NP_006260.1:p.Arg340Thr