Canonical Allele Identifier: CA241609

Gene: RP1

Linked Data

• ClinVar Variation Id: 195261
• ClinVar RCV Id: RCV000175822 ; RCV000302193 ; RCV000504802
• dbSNP Id: rs180729424
• ExAC: 8:55534041 T / G
• gnomAD v2: 8-55534041-T-G
• gnomAD v3: 8-54621481-T-G
• gnomAD v4: 8-54621481-T-G
• MyVariant Identifiers: chr8:g.55534041T>G (hg19) ; chr8:g.54621481T>G (hg38)
• PubMed: PMID:22334370 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54621481T>G , CM000670.2:g.54621481T>G	GRCh38
NC_000008.10:g.55534041T>G , CM000670.1:g.55534041T>G	GRCh37
NC_000008.9:g.55696594T>G	NCBI36
NG_009840.1:g.10415T>G
NG_009840.2:g.10415T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.515T>G MANE Select	ENSP00000220676.1:p.Leu172Arg
ENST00000636932.1:c.515T>G	ENSP00000489857.1:p.Leu172Arg
ENST00000637698.1:c.515T>G	ENSP00000490104.1:p.Leu172Arg
ENST00000220676.1:c.515T>G	ENSP00000220676.1:p.Leu172Arg
NM_006269.1:c.515T>G	NP_006260.1:p.Leu172Arg
XM_017013721.1:c.536T>G	XP_016869210.1:p.Leu179Arg
XM_017013722.1:c.515T>G	XP_016869211.1:p.Leu172Arg
NM_001375654.1:c.515T>G	NP_001362583.1:p.Leu172Arg
NM_006269.2:c.515T>G MANE Select	NP_006260.1:p.Leu172Arg