Canonical Allele Identifier: CA115397

Gene: RP1L1

Linked Data

• ClinVar Variation Id: 2193
• ClinVar RCV Id: RCV000002277 ; RCV000726920 ; RCV001074376 ; RCV001197672
• dbSNP Id: rs267607017
• ExAC: 8:10480579 G / A
• gnomAD v2: 8-10480579-G-A
• gnomAD v3: 8-10623069-G-A
• gnomAD v4: 8-10623069-G-A
• MyVariant Identifiers: chr8:g.10480579G>A (hg19) ; chr8:g.10623069G>A (hg38)
• PubMed: PMID:20826268 ; PMID:23281133 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10623069G>A , CM000670.2:g.10623069G>A	GRCh38
NC_000008.10:g.10480579G>A , CM000670.1:g.10480579G>A	GRCh37
NC_000008.9:g.10517989G>A	NCBI36
NG_028035.1:g.37039C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.133C>T MANE Select	ENSP00000371923.3:p.Arg45Trp
ENST00000329335.3:n.383C>T
ENST00000382483.3:c.133C>T	ENSP00000371923.3:p.Arg45Trp
NM_178857.5:c.133C>T	NP_849188.4:p.Arg45Trp
NM_178857.6:c.133C>T MANE Select	NP_849188.4:p.Arg45Trp