Canonical Allele Identifier: CA082742

Gene: NUBPL

Linked Data

• ClinVar Variation Id: 7
• ClinVar RCV Id: RCV000000017 ; RCV000735415
• PubMed: PMID:20818383 ; PMID:22072591 ; PMID:23553477 ; PMID:24088041 ; PMID:26633545

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.[31562125G>A;31850092T>C] , CM000676.2:g.[31562125G>A;31850092T>C]	GRCh38
NC_000014.8:g.[32031331G>A;32319298T>C] , CM000676.1:g.[32031331G>A;32319298T>C]	GRCh37
NC_000014.7:g.[31101082G>A;31389049T>C]	NCBI36
NG_028349.1:g.[5741G>A;293708T>C]

Transcript Alleles

HGVS	Amino-acid change
ENST00000281081.12:c.[166G>A;815-27T>C] MANE Select	ENSP00000281081.7:p.Gly56Arg
ENST00000281081.11:c.[166G>A;815-27T>C]	ENSP00000281081.7:p.Gly56Arg
ENST00000547839.5:c.[166G>A;*199-27T>C]	ENSP00000449918.1:p.Gly56Arg
ENST00000550649.5:c.[166G>A;413-27T>C]	ENSP00000447618.1:p.Gly56Arg
NM_025152.2:c.[166G>A;815-27T>C]	NP_079428.2:p.Gly56Arg
NR_120408.1:n.[221G>A;776-27T>C]
XM_011537182.1:c.[-290G>A;425-27T>C]	XP_011535484.1:n.[-290G>A;425-27T>C]
XM_011537182.2:c.[-290G>A;425-27T>C]	XP_011535484.1:n.[-290G>A;425-27T>C]
XM_017021667.1:c.[-218G>A;392-27T>C]	XP_016877156.1:n.[-218G>A;392-27T>C]
NM_025152.3:c.[166G>A;815-27T>C] MANE Select	NP_079428.2:p.Gly56Arg
NR_120408.2:n.[202G>A;757-27T>C]