Canonical Allele Identifier: CA459620209
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1976768
ClinVar RCV Id: RCV002761039
dbSNP Id: rs1798084219
gnomAD v4: 8-10622767-C-T
MyVariant Identifiers: chr8:g.10480277C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622767C>T , CM000670.2:g.10622767C>T GRCh38
NC_000008.10:g.10480277C>T , CM000670.1:g.10480277C>T GRCh37
NC_000008.9:g.10517687C>T NCBI36
NG_028035.1:g.37341G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.435G>A MANE Select ENSP00000371923.3:p.Arg145=
ENST00000329335.3:n.685G>A
ENST00000382483.3:c.435G>A ENSP00000371923.3:p.Arg145=
NM_178857.5:c.435G>A NP_849188.4:p.Arg145=
NM_178857.6:c.435G>A MANE Select NP_849188.4:p.Arg145=
Search 100 bp 5'
Search 100 bp 3'