Canonical Allele Identifier: CA370295232
Gene: RP1L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612512T>A , CM000670.2:g.10612512T>A GRCh38
NC_000008.10:g.10470022T>A , CM000670.1:g.10470022T>A GRCh37
NC_000008.9:g.10507432T>A NCBI36
NG_028035.1:g.47596A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1586A>T MANE Select ENSP00000371923.3:p.Glu529Val
ENST00000382483.3:c.1586A>T ENSP00000371923.3:p.Glu529Val
NM_178857.5:c.1586A>T NP_849188.4:p.Glu529Val
NM_178857.6:c.1586A>T MANE Select NP_849188.4:p.Glu529Val