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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:
CA10048020
Gene: RRP1B
HGNC
NCBI
Linked Data
dbSNP Id:
rs9306160
ExAC:
21:45107562 T / C
gnomAD v2:
21-45107562-T-C
gnomAD v3:
21-43687681-T-C
gnomAD v4:
21-43687681-T-C
MyVariant Identifiers:
chr21:g.45107562T>C (hg19)
chr21:g.43687681T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.43687681T>C , CM000683.2:g.43687681T>C
GRCh38
NC_000021.8:g.45107562T>C , CM000683.1:g.45107562T>C
GRCh37
NC_000021.7:g.43931990T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000340648.6:c.1307T>C
MANE Select
ENSP00000339145.4:p.Leu436Pro
ENST00000340648.5:c.1307T>C
ENSP00000339145.4:p.Leu436Pro
ENST00000470886.1:n.970T>C
NM_015056.2:c.1307T>C
NP_055871.1:p.Leu436Pro
NM_015056.3:c.1307T>C
MANE Select
NP_055871.1:p.Leu436Pro
Search 100 bp 5'
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