Canonical Allele Identifier: CA459619901
Gene: RP1L1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.10470465C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612955C>T , CM000670.2:g.10612955C>T GRCh38
NC_000008.10:g.10470465C>T , CM000670.1:g.10470465C>T GRCh37
NC_000008.9:g.10507875C>T NCBI36
NG_028035.1:g.47153G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1143G>A MANE Select ENSP00000371923.3:p.Val381=
ENST00000382483.3:c.1143G>A ENSP00000371923.3:p.Val381=
NM_178857.5:c.1143G>A NP_849188.4:p.Val381=
NM_178857.6:c.1143G>A MANE Select NP_849188.4:p.Val381=