×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA4625178
Gene: RP1L1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2318410
ClinVar RCV Id:
RCV002910561
dbSNP Id:
rs764837007
ExAC:
8:10470181 G / A
gnomAD v2:
8-10470181-G-A
gnomAD v3:
8-10612671-G-A
gnomAD v4:
8-10612671-G-A
COSMIC:
COSM5062762
MyVariant Identifiers:
chr8:g.10470181G>A (hg19)
chr8:g.10612671G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.10612671G>A , CM000670.2:g.10612671G>A
GRCh38
NC_000008.10:g.10470181G>A , CM000670.1:g.10470181G>A
GRCh37
NC_000008.9:g.10507591G>A
NCBI36
NG_028035.1:g.47437C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000382483.4:c.1427C>T
MANE Select
ENSP00000371923.3:p.Pro476Leu
ENST00000382483.3:c.1427C>T
ENSP00000371923.3:p.Pro476Leu
NM_178857.5:c.1427C>T
NP_849188.4:p.Pro476Leu
NM_178857.6:c.1427C>T
MANE Select
NP_849188.4:p.Pro476Leu
Search 100 bp 5'
Search 100 bp 3'