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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
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Canonical Allele Identifier:
CA171954802
Gene: RP1L1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1982654
ClinVar RCV Id:
RCV002766848
dbSNP Id:
rs769237488
gnomAD v2:
8-10480382-G-A
gnomAD v4:
8-10622872-G-A
MyVariant Identifiers:
chr8:g.10480382G>A (hg19)
chr8:g.10622872G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.10622872G>A , CM000670.2:g.10622872G>A
GRCh38
NC_000008.10:g.10480382G>A , CM000670.1:g.10480382G>A
GRCh37
NC_000008.9:g.10517792G>A
NCBI36
NG_028035.1:g.37236C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000382483.4:c.330C>T
MANE Select
ENSP00000371923.3:p.Pro110=
ENST00000329335.3:n.580C>T
ENST00000382483.3:c.330C>T
ENSP00000371923.3:p.Pro110=
NM_178857.5:c.330C>T
NP_849188.4:p.Pro110=
NM_178857.6:c.330C>T
MANE Select
NP_849188.4:p.Pro110=
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