Canonical Allele Identifier: CA6677751
Gene: NUP107 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.68721854G>A
GRCh37 chr12:g.69115634G>A
Revel Score:
ENST00000229179 (MANE Select) 0.790
ENST00000378905 0.790
ENST00000539906 0.790
ClinVar RCV:
RCV000760138
ClinVar Variation:
619945
dbSNP:
745342141
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.68721854G>A , CM000674.2:g.68721854G>A GRCh38
NC_000012.11:g.69115634G>A , CM000674.1:g.69115634G>A GRCh37
NC_000012.10:g.67401901G>A NCBI36
NG_046600.2:g.39904G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229179.9:c.1325G>A MANE Select ENSP00000229179.4:p.Cys442Tyr
ENST00000229179.8:c.1325G>A ENSP00000229179.4:p.Cys442Tyr
ENST00000378905.6:c.872G>A ENSP00000368185.2:p.Cys291Tyr
ENST00000535718.5:c.*868G>A ENSP00000445567.1:n.*868G>A
ENST00000538993.1:c.56G>A ENSP00000441334.1:p.Cys19Tyr
ENST00000539906.5:c.1238G>A ENSP00000441448.1:p.Cys413Tyr
NM_020401.2:c.1325G>A NP_065134.1:p.Cys442Tyr
XM_005269037.2:c.1265G>A XP_005269094.1:p.Cys422Tyr
XM_011538576.1:c.1238G>A XP_011536878.1:p.Cys413Tyr
NM_001330192.1:c.1238G>A NP_001317121.1:p.Cys413Tyr
NM_020401.3:c.1325G>A NP_065134.1:p.Cys442Tyr
XM_005269037.4:c.1265G>A XP_005269094.1:p.Cys422Tyr
NM_020401.4:c.1325G>A MANE Select NP_065134.1:p.Cys442Tyr
NM_001330192.2:c.1238G>A NP_001317121.1:p.Cys413Tyr
Search 100 bp 5'
Search 100 bp 3'