Canonical Allele Identifier: CA119257
Gene: RAPSN HGNC NCBI

Linked Data

ClinVar Variation Id: 8055
ClinVar RCV Id: RCV000008521 RCV000704275 RCV000992743 RCV001275253 RCV002476946 RCV003460442
dbSNP Id: rs121909254
ExAC: 11:47470384 C / T
gnomAD v2: 11-47470384-C-T
gnomAD v3: 11-47448832-C-T
gnomAD v4: 11-47448832-C-T
MyVariant Identifiers: chr11:g.47470384C>T (hg19) chr11:g.47448832C>T (hg38)
PubMed: PMID:17594401 PMID:25363768
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47448832C>T , CM000673.2:g.47448832C>T GRCh38
NC_000011.9:g.47470384C>T , CM000673.1:g.47470384C>T GRCh37
NC_000011.8:g.47426960C>T NCBI36
NG_008312.1:g.5347G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000298854.7:c.133G>A MANE Select ENSP00000298854.2:p.Val45Met
ENST00000298854.6:c.133G>A ENSP00000298854.2:p.Val45Met
ENST00000352508.7:c.133G>A ENSP00000298853.3:p.Val45Met
ENST00000524487.5:c.133G>A ENSP00000435551.2:p.Val45Met
ENST00000529341.1:c.133G>A ENSP00000431732.1:p.Val45Met
NM_005055.4:c.133G>A NP_005046.2:p.Val45Met
NM_032645.4:c.133G>A NP_116034.2:p.Val45Met
XM_005253042.2:c.133G>A XP_005253099.1:p.Val45Met
XM_005253043.2:c.133G>A XP_005253100.1:p.Val45Met
XM_011520252.1:c.133G>A XP_011518554.1:p.Val45Met
XM_011520253.1:c.133G>A XP_011518555.1:p.Val45Met
XM_005253042.3:c.133G>A XP_005253099.1:p.Val45Met
XM_005253043.3:c.133G>A XP_005253100.1:p.Val45Met
NM_005055.5:c.133G>A MANE Select NP_005046.2:p.Val45Met
NM_032645.5:c.133G>A NP_116034.2:p.Val45Met
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