Canonical Allele Identifier: CA6677361
Community Standard Title: NM_020401.4(NUP107):c.262C>T (p.Arg88Ter)
Gene: NUP107 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.68690705C>T , CM000674.2:g.68690705C>T GRCh38
NC_000012.11:g.69084485C>T , CM000674.1:g.69084485C>T GRCh37
NC_000012.10:g.67370752C>T NCBI36
NG_046600.2:g.8755C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020401.4:c.262C>T MANE Select NP_065134.1:p.Arg88Ter
ENST00000229179.9:c.262C>T MANE Select ENSP00000229179.4:p.Arg88Ter
NM_001330192.1:c.175C>T NP_001317121.1:p.Arg59Ter
NM_001330192.2:c.175C>T NP_001317121.1:p.Arg59Ter
NM_020401.2:c.262C>T NP_065134.1:p.Arg88Ter
NM_020401.3:c.262C>T NP_065134.1:p.Arg88Ter
ENST00000229179.8:c.262C>T ENSP00000229179.4:p.Arg88Ter
ENST00000378905.6:c.-192C>T ENSP00000368185.2:n.-192C>T
ENST00000535333.5:n.336C>T
ENST00000535718.5:c.262C>T ENSP00000445567.1:p.Arg88Ter
ENST00000537598.5:n.328C>T
ENST00000538549.1:c.-39C>T ENSP00000440116.1:n.-39C>T
ENST00000539373.1:n.35C>T
ENST00000539906.5:c.175C>T ENSP00000441448.1:p.Arg59Ter
ENST00000545140.1:n.238C>T
XM_005269037.2:c.262C>T XP_005269094.1:p.Arg88Ter
XM_005269037.4:c.262C>T XP_005269094.1:p.Arg88Ter
XM_011538576.1:c.175C>T XP_011536878.1:p.Arg59Ter