Canonical Allele Identifier: CA370300267
Gene: RP1L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622796G>C , CM000670.2:g.10622796G>C GRCh38
NC_000008.10:g.10480306G>C , CM000670.1:g.10480306G>C GRCh37
NC_000008.9:g.10517716G>C NCBI36
NG_028035.1:g.37312C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.406C>G MANE Select ENSP00000371923.3:p.Arg136Gly
ENST00000329335.3:n.656C>G
ENST00000382483.3:c.406C>G ENSP00000371923.3:p.Arg136Gly
NM_178857.5:c.406C>G NP_849188.4:p.Arg136Gly
NM_178857.6:c.406C>G MANE Select NP_849188.4:p.Arg136Gly