Canonical Allele Identifier: CA371658896

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90982782T>A (hg19) ; chr8:g.89970554T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970554T>A , CM000670.2:g.89970554T>A	GRCh38
NC_000008.10:g.90982782T>A , CM000670.1:g.90982782T>A	GRCh37
NC_000008.9:g.91051958T>A	NCBI36
NG_008860.1:g.19118A>T , LRG_158:g.19118A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2008A>T
ENST00000517337.2:c.460A>T	ENSP00000429971.2:p.Lys154Ter
ENST00000523444.2:c.460A>T	ENSP00000428252.2:p.Lys154Ter
ENST00000697292.1:c.706A>T	ENSP00000513229.1:p.Lys236Ter
ENST00000697293.1:c.706A>T	ENSP00000513230.1:p.Lys236Ter
ENST00000697294.1:c.*317A>T	ENSP00000513231.1:n.*317A>T
ENST00000697295.1:c.*15A>T	ENSP00000513232.1:n.*15A>T
ENST00000697296.1:c.*374A>T	ENSP00000513233.1:n.*374A>T
ENST00000697297.1:n.2491A>T
ENST00000697298.1:c.460A>T	ENSP00000513234.1:p.Lys154Ter
ENST00000697299.1:c.460A>T	ENSP00000513235.1:p.Lys154Ter
ENST00000697300.1:c.*310A>T	ENSP00000513236.1:n.*310A>T
ENST00000697301.1:c.*227A>T	ENSP00000513237.1:n.*227A>T
ENST00000697302.1:c.*227A>T	ENSP00000513238.1:n.*227A>T
ENST00000697303.1:c.*310A>T	ENSP00000513239.1:n.*310A>T
ENST00000697304.1:c.585-6047A>T	ENSP00000513240.1:n.585-6047A>T
ENST00000697306.1:c.480+10180A>T	ENSP00000513241.1:n.480+10180A>T
ENST00000697307.1:c.706A>T	ENSP00000513242.1:p.Lys236Ter
ENST00000697308.1:c.706A>T	ENSP00000513243.1:p.Lys236Ter
ENST00000697309.1:c.706A>T	ENSP00000513244.1:p.Lys236Ter
ENST00000697310.1:c.706A>T	ENSP00000513245.1:p.Lys236Ter
ENST00000697311.1:c.706A>T	ENSP00000513246.1:p.Lys236Ter
ENST00000697312.1:c.*104A>T	ENSP00000513247.1:n.*104A>T
ENST00000697313.1:n.2497A>T
ENST00000697314.1:n.2497A>T
ENST00000697315.1:c.706A>T	ENSP00000513248.1:p.Lys236Ter
ENST00000697316.1:n.827A>T
ENST00000697317.1:n.816A>T
ENST00000697318.1:n.818A>T
ENST00000265433.8:c.706A>T MANE Select	ENSP00000265433.4:p.Lys236Ter
ENST00000265433.7:c.706A>T	ENSP00000265433.3:p.Lys236Ter
ENST00000396252.6:c.*579A>T	ENSP00000379551.2:n.*579A>T
ENST00000409330.5:c.460A>T	ENSP00000386924.1:p.Lys154Ter
ENST00000517772.5:c.460A>T	ENSP00000428717.1:p.Lys154Ter
ENST00000519426.5:c.442A>T	ENSP00000430983.1:p.Lys148Ter
NM_001024688.2:c.460A>T	NP_001019859.1:p.Lys154Ter
NM_002485.4:c.706A>T , LRG_158t1:c.706A>T	NP_002476.2:p.Lys236Ter
XM_011517044.1:c.682A>T	XP_011515346.1:p.Lys228Ter
XM_011517045.1:c.460A>T	XP_011515347.1:p.Lys154Ter
XM_011517046.1:c.706A>T	XP_011515348.1:p.Lys236Ter
XR_928335.1:n.843A>T
XM_017013460.1:c.-174A>T	XP_016868949.1:n.-174A>T
XM_017013462.2:c.-174A>T	XP_016868951.1:n.-174A>T
XM_024447163.1:c.460A>T	XP_024302931.1:p.Lys154Ter
XM_024447164.1:c.460A>T	XP_024302932.1:p.Lys154Ter
XM_024447165.1:c.-174A>T	XP_024302933.1:n.-174A>T
NM_002485.5:c.706A>T MANE Select	NP_002476.2:p.Lys236Ter
NM_001024688.3:c.460A>T	NP_001019859.1:p.Lys154Ter