Canonical Allele Identifier: CA4802631
Community Standard Title: NM_002485.5(NBN):c.2007C>T (p.Ser669=)
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89946203G>A , CM000670.2:g.89946203G>A GRCh38
NC_000008.10:g.90958431G>A , CM000670.1:g.90958431G>A GRCh37
NC_000008.9:g.91027607G>A NCBI36
NG_008860.1:g.43469C>T , LRG_158:g.43469C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002485.5:c.2007C>T MANE Select NP_002476.2:p.Ser669=
ENST00000265433.8:c.2007C>T MANE Select ENSP00000265433.4:p.Ser669=
NM_001024688.2:c.1761C>T NP_001019859.1:p.Ser587=
NM_001024688.3:c.1761C>T NP_001019859.1:p.Ser587=
NM_002485.4:c.2007C>T , LRG_158t1:c.2007C>T NP_002476.2:p.Ser669=
ENST00000265433.7:c.2007C>T ENSP00000265433.3:p.Ser669=
ENST00000396252.6:c.*1880C>T ENSP00000379551.2:n.*1880C>T
ENST00000409330.5:c.1761C>T ENSP00000386924.1:p.Ser587=
ENST00000494804.2:n.3309C>T
ENST00000517337.2:c.1761C>T ENSP00000429971.2:p.Ser587=
ENST00000520325.1:n.423C>T
ENST00000523444.2:c.1761C>T ENSP00000428252.2:p.Ser587=
ENST00000613033.1:c.180+1621C>T ENSP00000484487.1:n.180+1621C>T
ENST00000697292.1:c.2007C>T ENSP00000513229.1:p.Ser669=
ENST00000697293.1:c.2007C>T ENSP00000513230.1:p.Ser669=
ENST00000697294.1:c.*1618C>T ENSP00000513231.1:n.*1618C>T
ENST00000697295.1:c.*1316C>T ENSP00000513232.1:n.*1316C>T
ENST00000697296.1:c.*1675C>T ENSP00000513233.1:n.*1675C>T
ENST00000697297.1:n.3792C>T
ENST00000697298.1:c.1761C>T ENSP00000513234.1:p.Ser587=
ENST00000697299.1:c.1761C>T ENSP00000513235.1:p.Ser587=
ENST00000697300.1:c.*1611C>T ENSP00000513236.1:n.*1611C>T
ENST00000697301.1:c.*1528C>T ENSP00000513237.1:n.*1528C>T
ENST00000697302.1:c.*1528C>T ENSP00000513238.1:n.*1528C>T
ENST00000697303.1:c.*1611C>T ENSP00000513239.1:n.*1611C>T
ENST00000697304.1:c.1695C>T ENSP00000513240.1:p.Ser565=
ENST00000697306.1:c.*2558C>T ENSP00000513241.1:n.*2558C>T
ENST00000697307.1:c.1846-2837C>T ENSP00000513242.1:n.1846-2837C>T
ENST00000697308.1:c.1938C>T ENSP00000513243.1:p.Ser646=
ENST00000697309.1:c.2007C>T ENSP00000513244.1:p.Ser669=
ENST00000697310.1:c.2007C>T ENSP00000513245.1:p.Ser669=
ENST00000697311.1:c.2007C>T ENSP00000513246.1:p.Ser669=
ENST00000697312.1:c.*1405C>T ENSP00000513247.1:n.*1405C>T
ENST00000697313.1:n.2688-10591C>T
ENST00000697314.1:n.3636+7041C>T
ENST00000697315.1:c.2007C>T ENSP00000513248.1:p.Ser669=
ENST00000697316.1:n.2128C>T
ENST00000697317.1:n.2098C>T
XM_011517044.1:c.1983C>T XP_011515346.1:p.Ser661=
XM_011517045.1:c.1761C>T XP_011515347.1:p.Ser587=
XM_017013460.1:c.1128C>T XP_016868949.1:p.Ser376=
XM_017013462.2:c.1128C>T XP_016868951.1:p.Ser376=
XM_024447163.1:c.1761C>T XP_024302931.1:p.Ser587=
XM_024447164.1:c.1761C>T XP_024302932.1:p.Ser587=
XM_024447165.1:c.1128C>T XP_024302933.1:p.Ser376=