Canonical Allele Identifier: CA459620101
Gene: RP1L1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.10480193C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622683C>T , CM000670.2:g.10622683C>T GRCh38
NC_000008.10:g.10480193C>T , CM000670.1:g.10480193C>T GRCh37
NC_000008.9:g.10517603C>T NCBI36
NG_028035.1:g.37425G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.519G>A MANE Select ENSP00000371923.3:p.Arg173=
ENST00000329335.3:n.769G>A
ENST00000382483.3:c.519G>A ENSP00000371923.3:p.Arg173=
NM_178857.5:c.519G>A NP_849188.4:p.Arg173=
NM_178857.6:c.519G>A MANE Select NP_849188.4:p.Arg173=