Canonical Allele Identifier: CA371658948

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90983414A>T (hg19) ; chr8:g.89971186A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971186A>T , CM000670.2:g.89971186A>T	GRCh38
NC_000008.10:g.90983414A>T , CM000670.1:g.90983414A>T	GRCh37
NC_000008.9:g.91052590A>T	NCBI36
NG_008860.1:g.18486T>A , LRG_158:g.18486T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.1991T>A
ENST00000517337.2:c.443T>A	ENSP00000429971.2:p.Leu148Ter
ENST00000523444.2:c.443T>A	ENSP00000428252.2:p.Leu148Ter
ENST00000697292.1:c.689T>A	ENSP00000513229.1:p.Leu230Ter
ENST00000697293.1:c.689T>A	ENSP00000513230.1:p.Leu230Ter
ENST00000697294.1:c.*300T>A	ENSP00000513231.1:n.*300T>A
ENST00000697295.1:c.142T>A	ENSP00000513232.1:p.Ter48Arg
ENST00000697296.1:c.*357T>A	ENSP00000513233.1:n.*357T>A
ENST00000697297.1:n.2474T>A
ENST00000697298.1:c.443T>A	ENSP00000513234.1:p.Leu148Ter
ENST00000697299.1:c.443T>A	ENSP00000513235.1:p.Leu148Ter
ENST00000697300.1:c.*293T>A	ENSP00000513236.1:n.*293T>A
ENST00000697301.1:c.*210T>A	ENSP00000513237.1:n.*210T>A
ENST00000697302.1:c.*210T>A	ENSP00000513238.1:n.*210T>A
ENST00000697303.1:c.*293T>A	ENSP00000513239.1:n.*293T>A
ENST00000697304.1:c.585-6679T>A	ENSP00000513240.1:n.585-6679T>A
ENST00000697306.1:c.480+9548T>A	ENSP00000513241.1:n.480+9548T>A
ENST00000697307.1:c.689T>A	ENSP00000513242.1:p.Leu230Ter
ENST00000697308.1:c.689T>A	ENSP00000513243.1:p.Leu230Ter
ENST00000697309.1:c.689T>A	ENSP00000513244.1:p.Leu230Ter
ENST00000697310.1:c.689T>A	ENSP00000513245.1:p.Leu230Ter
ENST00000697311.1:c.689T>A	ENSP00000513246.1:p.Leu230Ter
ENST00000697312.1:c.*87T>A	ENSP00000513247.1:n.*87T>A
ENST00000697313.1:n.2480T>A
ENST00000697314.1:n.2480T>A
ENST00000697315.1:c.689T>A	ENSP00000513248.1:p.Leu230Ter
ENST00000697316.1:n.810T>A
ENST00000697317.1:n.799T>A
ENST00000697318.1:n.801T>A
ENST00000265433.8:c.689T>A MANE Select	ENSP00000265433.4:p.Leu230Ter
ENST00000265433.7:c.689T>A	ENSP00000265433.3:p.Leu230Ter
ENST00000396252.6:c.*562T>A	ENSP00000379551.2:n.*562T>A
ENST00000409330.5:c.443T>A	ENSP00000386924.1:p.Leu148Ter
ENST00000517772.5:c.443T>A	ENSP00000428717.1:p.Leu148Ter
ENST00000519426.5:c.425T>A	ENSP00000430983.1:p.Leu142Ter
NM_001024688.2:c.443T>A	NP_001019859.1:p.Leu148Ter
NM_002485.4:c.689T>A , LRG_158t1:c.689T>A	NP_002476.2:p.Leu230Ter
XM_011517044.1:c.665T>A	XP_011515346.1:p.Leu222Ter
XM_011517045.1:c.443T>A	XP_011515347.1:p.Leu148Ter
XM_011517046.1:c.689T>A	XP_011515348.1:p.Leu230Ter
XR_928335.1:n.826T>A
XM_017013460.1:c.-191T>A	XP_016868949.1:n.-191T>A
XM_017013462.2:c.-191T>A	XP_016868951.1:n.-191T>A
XM_024447163.1:c.443T>A	XP_024302931.1:p.Leu148Ter
XM_024447164.1:c.443T>A	XP_024302932.1:p.Leu148Ter
XM_024447165.1:c.-191T>A	XP_024302933.1:n.-191T>A
NM_002485.5:c.689T>A MANE Select	NP_002476.2:p.Leu230Ter
NM_001024688.3:c.443T>A	NP_001019859.1:p.Leu148Ter