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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:
CA171940488
Gene: RP1L1
HGNC
NCBI
Linked Data
dbSNP Id:
rs190549596
gnomAD v2:
8-10465721-A-C
gnomAD v3:
8-10608211-A-C
gnomAD v4:
8-10608211-A-C
MyVariant Identifiers:
chr8:g.10465721A>C (hg19)
chr8:g.10608211A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.10608211A>C , CM000670.2:g.10608211A>C
GRCh38
NC_000008.10:g.10465721A>C , CM000670.1:g.10465721A>C
GRCh37
NC_000008.9:g.10503131A>C
NCBI36
NG_028035.1:g.51897T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000382483.4:c.5887T>G
MANE Select
ENSP00000371923.3:p.Ser1963Ala
ENST00000382483.3:c.5887T>G
ENSP00000371923.3:p.Ser1963Ala
NM_178857.5:c.5887T>G
NP_849188.4:p.Ser1963Ala
NM_178857.6:c.5887T>G
MANE Select
NP_849188.4:p.Ser1963Ala
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