Canonical Allele Identifier: CA370296180

Gene: RP1L1

Linked Data

• gnomAD v4: 8-10612939-A-G
• MyVariant Identifiers: chr8:g.10470449A>G (hg19) ; chr8:g.10612939A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10612939A>G , CM000670.2:g.10612939A>G	GRCh38
NC_000008.10:g.10470449A>G , CM000670.1:g.10470449A>G	GRCh37
NC_000008.9:g.10507859A>G	NCBI36
NG_028035.1:g.47169T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.1159T>C MANE Select	ENSP00000371923.3:p.Cys387Arg
ENST00000382483.3:c.1159T>C	ENSP00000371923.3:p.Cys387Arg
NM_178857.5:c.1159T>C	NP_849188.4:p.Cys387Arg
NM_178857.6:c.1159T>C MANE Select	NP_849188.4:p.Cys387Arg