Canonical Allele Identifier: CA371656001
Community Standard Title: NM_002485.5(NBN):c.1373A>T (p.Tyr458Phe)
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89955307T>A , CM000670.2:g.89955307T>A GRCh38
NC_000008.10:g.90967535T>A , CM000670.1:g.90967535T>A GRCh37
NC_000008.9:g.91036711T>A NCBI36
NG_008860.1:g.34365A>T , LRG_158:g.34365A>T

Transcript Alleles

HGVS Amino-acid Change
NM_002485.5:c.1373A>T MANE Select NP_002476.2:p.Tyr458Phe
ENST00000265433.8:c.1373A>T MANE Select ENSP00000265433.4:p.Tyr458Phe
NM_001024688.2:c.1127A>T NP_001019859.1:p.Tyr376Phe
NM_001024688.3:c.1127A>T NP_001019859.1:p.Tyr376Phe
NM_002485.4:c.1373A>T , LRG_158t1:c.1373A>T NP_002476.2:p.Tyr458Phe
ENST00000265433.7:c.1373A>T ENSP00000265433.3:p.Tyr458Phe
ENST00000396252.6:c.*1246A>T ENSP00000379551.2:n.*1246A>T
ENST00000409330.5:c.1127A>T ENSP00000386924.1:p.Tyr376Phe
ENST00000494804.2:n.2675A>T
ENST00000517337.2:c.1127A>T ENSP00000429971.2:p.Tyr376Phe
ENST00000523444.2:c.1127A>T ENSP00000428252.2:p.Tyr376Phe
ENST00000697292.1:c.1373A>T ENSP00000513229.1:p.Tyr458Phe
ENST00000697293.1:c.1373A>T ENSP00000513230.1:p.Tyr458Phe
ENST00000697294.1:c.*984A>T ENSP00000513231.1:n.*984A>T
ENST00000697295.1:c.*682A>T ENSP00000513232.1:n.*682A>T
ENST00000697296.1:c.*1041A>T ENSP00000513233.1:n.*1041A>T
ENST00000697297.1:n.3158A>T
ENST00000697298.1:c.1127A>T ENSP00000513234.1:p.Tyr376Phe
ENST00000697299.1:c.1127A>T ENSP00000513235.1:p.Tyr376Phe
ENST00000697300.1:c.*977A>T ENSP00000513236.1:n.*977A>T
ENST00000697301.1:c.*894A>T ENSP00000513237.1:n.*894A>T
ENST00000697302.1:c.*894A>T ENSP00000513238.1:n.*894A>T
ENST00000697303.1:c.*977A>T ENSP00000513239.1:n.*977A>T
ENST00000697304.1:c.1061A>T ENSP00000513240.1:p.Tyr354Phe
ENST00000697306.1:c.*373A>T ENSP00000513241.1:n.*373A>T
ENST00000697307.1:c.1373A>T ENSP00000513242.1:p.Tyr458Phe
ENST00000697308.1:c.1373A>T ENSP00000513243.1:p.Tyr458Phe
ENST00000697309.1:c.1373A>T ENSP00000513244.1:p.Tyr458Phe
ENST00000697310.1:c.1373A>T ENSP00000513245.1:p.Tyr458Phe
ENST00000697311.1:c.1373A>T ENSP00000513246.1:p.Tyr458Phe
ENST00000697312.1:c.*771A>T ENSP00000513247.1:n.*771A>T
ENST00000697313.1:n.2687+15057A>T
ENST00000697314.1:n.3164A>T
ENST00000697315.1:c.1373A>T ENSP00000513248.1:p.Tyr458Phe
ENST00000697316.1:n.1494A>T
ENST00000697317.1:n.1483A>T
ENST00000697318.1:n.1485A>T
XM_011517044.1:c.1349A>T XP_011515346.1:p.Tyr450Phe
XM_011517045.1:c.1127A>T XP_011515347.1:p.Tyr376Phe
XM_011517046.1:c.1373A>T XP_011515348.1:p.Tyr458Phe
XM_017013460.1:c.494A>T XP_016868949.1:p.Tyr165Phe
XM_017013462.2:c.494A>T XP_016868951.1:p.Tyr165Phe
XM_024447163.1:c.1127A>T XP_024302931.1:p.Tyr376Phe
XM_024447164.1:c.1127A>T XP_024302932.1:p.Tyr376Phe
XM_024447165.1:c.494A>T XP_024302933.1:p.Tyr165Phe
XR_928335.1:n.1510A>T