Canonical Allele Identifier: CA370295757
Gene: RP1L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612786A>T , CM000670.2:g.10612786A>T GRCh38
NC_000008.10:g.10470296A>T , CM000670.1:g.10470296A>T GRCh37
NC_000008.9:g.10507706A>T NCBI36
NG_028035.1:g.47322T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1312T>A MANE Select ENSP00000371923.3:p.Trp438Arg
ENST00000382483.3:c.1312T>A ENSP00000371923.3:p.Trp438Arg
NM_178857.5:c.1312T>A NP_849188.4:p.Trp438Arg
NM_178857.6:c.1312T>A MANE Select NP_849188.4:p.Trp438Arg