Canonical Allele Identifier: CA202377

Gene: RP1

Linked Data

• ClinVar Variation Id: 196435
• ClinVar RCV Id: RCV000177256 ; RCV000487641 ; RCV000505116 ; RCV002500496
• dbSNP Id: rs186571865
• ExAC: 8:55534671 T / C
• gnomAD v2: 8-55534671-T-C
• gnomAD v3: 8-54622111-T-C
• gnomAD v4: 8-54622111-T-C
• MyVariant Identifiers: chr8:g.55534671T>C (hg19) ; chr8:g.54622111T>C (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54622111T>C , CM000670.2:g.54622111T>C	GRCh38
NC_000008.10:g.55534671T>C , CM000670.1:g.55534671T>C	GRCh37
NC_000008.9:g.55697224T>C	NCBI36
NG_009840.1:g.11045T>C
NG_009840.2:g.11045T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.616-6T>C MANE Select	ENSP00000220676.1:n.616-6T>C
ENST00000636932.1:c.616-6T>C	ENSP00000489857.1:n.616-6T>C
ENST00000637698.1:c.616-6T>C	ENSP00000490104.1:n.616-6T>C
ENST00000220676.1:c.616-6T>C	ENSP00000220676.1:n.616-6T>C
NM_006269.1:c.616-6T>C	NP_006260.1:n.616-6T>C
XM_017013721.1:c.637-6T>C	XP_016869210.1:n.637-6T>C
XM_017013722.1:c.616-6T>C	XP_016869211.1:n.616-6T>C
NM_001375654.1:c.616-6T>C	NP_001362583.1:n.616-6T>C
NM_006269.2:c.616-6T>C MANE Select	NP_006260.1:n.616-6T>C