Canonical Allele Identifier: CA174798

Gene: RPUSD1

Linked Data

• ClinVar Variation Id: 161795
• ClinVar RCV Id: RCV000149331
• dbSNP Id: rs193920771
• COSMIC: COSM1179190
• MyVariant Identifiers: chr16:g.836368T>C (hg19) ; chr16:g.786368T>C (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.786368T>C , CM000678.2:g.786368T>C	GRCh38
NC_000016.9:g.836368T>C , CM000678.1:g.836368T>C	GRCh37
NC_000016.8:g.776369T>C	NCBI36
NG_047098.1:g.7020A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000007264.7:c.521A>G MANE Select	ENSP00000007264.2:p.His174Arg
ENST00000007264.6:c.521A>G	ENSP00000007264.2:p.His174Arg
ENST00000561734.5:c.521A>G	ENSP00000455026.1:p.His174Arg
ENST00000562070.1:c.780A>G
ENST00000565377.1:c.134A>G	ENSP00000456692.1:p.His45Arg
ENST00000565809.5:c.*22A>G	ENSP00000457722.1:n.*22A>G
ENST00000567114.5:c.134A>G	ENSP00000455862.1:p.His45Arg
ENST00000567283.5:c.*105A>G	ENSP00000457527.1:n.*105A>G
ENST00000569601.5:c.143A>G	ENSP00000454616.1:p.His48Arg
NM_058192.2:c.521A>G	NP_478072.1:p.His174Arg
XM_011522352.1:c.530A>G	XP_011520654.1:p.His177Arg
NM_001324086.1:c.530A>G	NP_001311015.1:p.His177Arg
NM_001324410.1:c.143A>G	NP_001311339.1:p.His48Arg
NM_001324411.1:c.*22A>G	NP_001311340.1:n.*22A>G
NM_001324412.1:c.134A>G	NP_001311341.1:p.His45Arg
NM_001324413.1:c.134A>G	NP_001311342.1:p.His45Arg
NM_001324414.1:c.134A>G	NP_001311343.1:p.His45Arg
NM_001324415.1:c.134A>G	NP_001311344.1:p.His45Arg
NM_058192.3:c.521A>G MANE Select	NP_478072.1:p.His174Arg
NM_001324086.2:c.530A>G	NP_001311015.1:p.His177Arg
NM_001324410.2:c.143A>G	NP_001311339.1:p.His48Arg
NM_001324411.2:c.*22A>G	NP_001311340.1:n.*22A>G
NM_001324412.2:c.134A>G	NP_001311341.1:p.His45Arg
NM_001324413.2:c.134A>G	NP_001311342.1:p.His45Arg
NM_001324414.2:c.134A>G	NP_001311343.1:p.His45Arg
NM_001324415.2:c.134A>G	NP_001311344.1:p.His45Arg
NM_001369658.1:c.473A>G	NP_001356587.1:p.His158Arg
NM_001369659.1:c.143A>G	NP_001356588.1:p.His48Arg
NM_001369660.1:c.134A>G	NP_001356589.1:p.His45Arg