Canonical Allele Identifier: CA370295844
Gene: RP1L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612831G>C , CM000670.2:g.10612831G>C GRCh38
NC_000008.10:g.10470341G>C , CM000670.1:g.10470341G>C GRCh37
NC_000008.9:g.10507751G>C NCBI36
NG_028035.1:g.47277C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1267C>G MANE Select ENSP00000371923.3:p.Arg423Gly
ENST00000382483.3:c.1267C>G ENSP00000371923.3:p.Arg423Gly
NM_178857.5:c.1267C>G NP_849188.4:p.Arg423Gly
NM_178857.6:c.1267C>G MANE Select NP_849188.4:p.Arg423Gly