Canonical Allele Identifier: CA459619847
Gene: RP1L1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.10480103C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622593C>T , CM000670.2:g.10622593C>T GRCh38
NC_000008.10:g.10480103C>T , CM000670.1:g.10480103C>T GRCh37
NC_000008.9:g.10517513C>T NCBI36
NG_028035.1:g.37515G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.609G>A MANE Select ENSP00000371923.3:p.Lys203=
ENST00000329335.3:n.859G>A
ENST00000382483.3:c.609G>A ENSP00000371923.3:p.Lys203=
NM_178857.5:c.609G>A NP_849188.4:p.Lys203=
NM_178857.6:c.609G>A MANE Select NP_849188.4:p.Lys203=