Canonical Allele Identifier: CA10048020
Gene: RRP1B HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.43687681T>C
GRCh37 chr21:g.45107562T>C
Revel Score:
ENST00000340648 (MANE Select) 0.017
gnomAD v2:
21:45107562 T / C
gnomAD v3:
21:43687681 T / C
gnomAD v4:
chr21-43687681-T-C
Joint Max Group AF 0.92826826 (AFR)
Genomes Max Group AF 0.91982109 (AFR)
Exomes Max Group AF 0.93347598 (AFR)
dbSNP:
9306160
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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
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