Canonical Allele Identifier: CA370295845
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1243183201
gnomAD v4: 8-10612833-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612833G>A , CM000670.2:g.10612833G>A GRCh38
NC_000008.10:g.10470343G>A , CM000670.1:g.10470343G>A GRCh37
NC_000008.9:g.10507753G>A NCBI36
NG_028035.1:g.47275C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1265C>T MANE Select ENSP00000371923.3:p.Ala422Val
ENST00000382483.3:c.1265C>T ENSP00000371923.3:p.Ala422Val
NM_178857.5:c.1265C>T NP_849188.4:p.Ala422Val
NM_178857.6:c.1265C>T MANE Select NP_849188.4:p.Ala422Val