Canonical Allele Identifier: CA371656814

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89958849T>G , CM000670.2:g.89958849T>G	GRCh38
NC_000008.10:g.90971077T>G , CM000670.1:g.90971077T>G	GRCh37
NC_000008.9:g.91040253T>G	NCBI36
NG_008860.1:g.30823A>C , LRG_158:g.30823A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002485.5:c.1000A>C MANE Select	NP_002476.2:p.Lys334Gln
ENST00000265433.8:c.1000A>C MANE Select	ENSP00000265433.4:p.Lys334Gln
NM_001024688.2:c.754A>C	NP_001019859.1:p.Lys252Gln
NM_001024688.3:c.754A>C	NP_001019859.1:p.Lys252Gln
NM_002485.4:c.1000A>C , LRG_158t1:c.1000A>C	NP_002476.2:p.Lys334Gln
ENST00000265433.7:c.1000A>C	ENSP00000265433.3:p.Lys334Gln
ENST00000396252.6:c.*873A>C	ENSP00000379551.2:n.*873A>C
ENST00000409330.5:c.754A>C	ENSP00000386924.1:p.Lys252Gln
ENST00000494804.2:n.2302A>C
ENST00000517337.2:c.754A>C	ENSP00000429971.2:p.Lys252Gln
ENST00000523444.2:c.754A>C	ENSP00000428252.2:p.Lys252Gln
ENST00000697292.1:c.1000A>C	ENSP00000513229.1:p.Lys334Gln
ENST00000697293.1:c.1000A>C	ENSP00000513230.1:p.Lys334Gln
ENST00000697294.1:c.*611A>C	ENSP00000513231.1:n.*611A>C
ENST00000697295.1:c.*309A>C	ENSP00000513232.1:n.*309A>C
ENST00000697296.1:c.*668A>C	ENSP00000513233.1:n.*668A>C
ENST00000697297.1:n.2785A>C
ENST00000697298.1:c.754A>C	ENSP00000513234.1:p.Lys252Gln
ENST00000697299.1:c.754A>C	ENSP00000513235.1:p.Lys252Gln
ENST00000697300.1:c.*604A>C	ENSP00000513236.1:n.*604A>C
ENST00000697301.1:c.*521A>C	ENSP00000513237.1:n.*521A>C
ENST00000697302.1:c.*521A>C	ENSP00000513238.1:n.*521A>C
ENST00000697303.1:c.*604A>C	ENSP00000513239.1:n.*604A>C
ENST00000697304.1:c.688A>C	ENSP00000513240.1:p.Lys230Gln
ENST00000697306.1:c.486A>C	ENSP00000513241.1:p.Ter162Tyr
ENST00000697307.1:c.1000A>C	ENSP00000513242.1:p.Lys334Gln
ENST00000697308.1:c.1000A>C	ENSP00000513243.1:p.Lys334Gln
ENST00000697309.1:c.1000A>C	ENSP00000513244.1:p.Lys334Gln
ENST00000697310.1:c.1000A>C	ENSP00000513245.1:p.Lys334Gln
ENST00000697311.1:c.1000A>C	ENSP00000513246.1:p.Lys334Gln
ENST00000697312.1:c.*398A>C	ENSP00000513247.1:n.*398A>C
ENST00000697313.1:n.2687+11515A>C
ENST00000697314.1:n.2791A>C
ENST00000697315.1:c.1000A>C	ENSP00000513248.1:p.Lys334Gln
ENST00000697316.1:n.1121A>C
ENST00000697317.1:n.1110A>C
ENST00000697318.1:n.1112A>C
XM_011517044.1:c.976A>C	XP_011515346.1:p.Lys326Gln
XM_011517045.1:c.754A>C	XP_011515347.1:p.Lys252Gln
XM_011517046.1:c.1000A>C	XP_011515348.1:p.Lys334Gln
XM_017013460.1:c.121A>C	XP_016868949.1:p.Lys41Gln
XM_017013462.2:c.121A>C	XP_016868951.1:p.Lys41Gln
XM_024447163.1:c.754A>C	XP_024302931.1:p.Lys252Gln
XM_024447164.1:c.754A>C	XP_024302932.1:p.Lys252Gln
XM_024447165.1:c.121A>C	XP_024302933.1:p.Lys41Gln
XR_928335.1:n.1137A>C