Canonical Allele Identifier: CA459620166

Gene: RP1L1

Linked Data

• ClinVar Variation Id: 910473
• ClinVar RCV Id: RCV001162277
• dbSNP Id: rs1426543260
• gnomAD v2: 8-10470429-T-C
• gnomAD v4: 8-10612919-T-C
• MyVariant Identifiers: chr8:g.10470429T>C (hg19) ; chr8:g.10470429_10470437delinsCTCCCTGCA (hg19) ; chr8:g.10612919T>C (hg38) ; chr8:g.10612919_10612927delinsCTCCCTGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10612919T>C , CM000670.2:g.10612919T>C	GRCh38
NC_000008.10:g.10470429T>C , CM000670.1:g.10470429T>C	GRCh37
NC_000008.9:g.10507839T>C	NCBI36
NG_028035.1:g.47189A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.1179A>G MANE Select	ENSP00000371923.3:p.Glu393=
ENST00000382483.3:c.1179A>G	ENSP00000371923.3:p.Glu393=
NM_178857.5:c.1179A>G	NP_849188.4:p.Glu393=
NM_178857.6:c.1179A>G MANE Select	NP_849188.4:p.Glu393=