Canonical Allele Identifier: CA371658203

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90982602T>G (hg19) ; chr8:g.89970374T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970374T>G , CM000670.2:g.89970374T>G	GRCh38
NC_000008.10:g.90982602T>G , CM000670.1:g.90982602T>G	GRCh37
NC_000008.9:g.91051778T>G	NCBI36
NG_008860.1:g.19298A>C , LRG_158:g.19298A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2188A>C
ENST00000517337.2:c.640A>C	ENSP00000429971.2:p.Met214Leu
ENST00000523444.2:c.640A>C	ENSP00000428252.2:p.Met214Leu
ENST00000697292.1:c.886A>C	ENSP00000513229.1:p.Met296Leu
ENST00000697293.1:c.886A>C	ENSP00000513230.1:p.Met296Leu
ENST00000697294.1:c.*497A>C	ENSP00000513231.1:n.*497A>C
ENST00000697295.1:c.*195A>C	ENSP00000513232.1:n.*195A>C
ENST00000697296.1:c.*554A>C	ENSP00000513233.1:n.*554A>C
ENST00000697297.1:n.2671A>C
ENST00000697298.1:c.640A>C	ENSP00000513234.1:p.Met214Leu
ENST00000697299.1:c.640A>C	ENSP00000513235.1:p.Met214Leu
ENST00000697300.1:c.*490A>C	ENSP00000513236.1:n.*490A>C
ENST00000697301.1:c.*407A>C	ENSP00000513237.1:n.*407A>C
ENST00000697302.1:c.*407A>C	ENSP00000513238.1:n.*407A>C
ENST00000697303.1:c.*490A>C	ENSP00000513239.1:n.*490A>C
ENST00000697304.1:c.585-5867A>C	ENSP00000513240.1:n.585-5867A>C
ENST00000697306.1:c.480+10360A>C	ENSP00000513241.1:n.480+10360A>C
ENST00000697307.1:c.886A>C	ENSP00000513242.1:p.Met296Leu
ENST00000697308.1:c.886A>C	ENSP00000513243.1:p.Met296Leu
ENST00000697309.1:c.886A>C	ENSP00000513244.1:p.Met296Leu
ENST00000697310.1:c.886A>C	ENSP00000513245.1:p.Met296Leu
ENST00000697311.1:c.886A>C	ENSP00000513246.1:p.Met296Leu
ENST00000697312.1:c.*284A>C	ENSP00000513247.1:n.*284A>C
ENST00000697313.1:n.2677A>C
ENST00000697314.1:n.2677A>C
ENST00000697315.1:c.886A>C	ENSP00000513248.1:p.Met296Leu
ENST00000697316.1:n.1007A>C
ENST00000697317.1:n.996A>C
ENST00000697318.1:n.998A>C
ENST00000265433.8:c.886A>C MANE Select	ENSP00000265433.4:p.Met296Leu
ENST00000265433.7:c.886A>C	ENSP00000265433.3:p.Met296Leu
ENST00000396252.6:c.*759A>C	ENSP00000379551.2:n.*759A>C
ENST00000409330.5:c.640A>C	ENSP00000386924.1:p.Met214Leu
NM_001024688.2:c.640A>C	NP_001019859.1:p.Met214Leu
NM_002485.4:c.886A>C , LRG_158t1:c.886A>C	NP_002476.2:p.Met296Leu
XM_011517044.1:c.862A>C	XP_011515346.1:p.Met288Leu
XM_011517045.1:c.640A>C	XP_011515347.1:p.Met214Leu
XM_011517046.1:c.886A>C	XP_011515348.1:p.Met296Leu
XR_928335.1:n.1023A>C
XM_017013460.1:c.7A>C	XP_016868949.1:p.Met3Leu
XM_017013462.2:c.7A>C	XP_016868951.1:p.Met3Leu
XM_024447163.1:c.640A>C	XP_024302931.1:p.Met214Leu
XM_024447164.1:c.640A>C	XP_024302932.1:p.Met214Leu
XM_024447165.1:c.7A>C	XP_024302933.1:p.Met3Leu
NM_002485.5:c.886A>C MANE Select	NP_002476.2:p.Met296Leu
NM_001024688.3:c.640A>C	NP_001019859.1:p.Met214Leu