Canonical Allele Identifier: CA371659068

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90983442T>G (hg19) ; chr8:g.89971214T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971214T>G , CM000670.2:g.89971214T>G	GRCh38
NC_000008.10:g.90983442T>G , CM000670.1:g.90983442T>G	GRCh37
NC_000008.9:g.91052618T>G	NCBI36
NG_008860.1:g.18458A>C , LRG_158:g.18458A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.1963A>C
ENST00000517337.2:c.415A>C	ENSP00000429971.2:p.Ile139Leu
ENST00000523444.2:c.415A>C	ENSP00000428252.2:p.Ile139Leu
ENST00000697292.1:c.661A>C	ENSP00000513229.1:p.Ile221Leu
ENST00000697293.1:c.661A>C	ENSP00000513230.1:p.Ile221Leu
ENST00000697294.1:c.*272A>C	ENSP00000513231.1:n.*272A>C
ENST00000697295.1:c.114A>C	ENSP00000513232.1:p.Lys38Asn
ENST00000697296.1:c.*329A>C	ENSP00000513233.1:n.*329A>C
ENST00000697297.1:n.2446A>C
ENST00000697298.1:c.415A>C	ENSP00000513234.1:p.Ile139Leu
ENST00000697299.1:c.415A>C	ENSP00000513235.1:p.Ile139Leu
ENST00000697300.1:c.*265A>C	ENSP00000513236.1:n.*265A>C
ENST00000697301.1:c.*182A>C	ENSP00000513237.1:n.*182A>C
ENST00000697302.1:c.*182A>C	ENSP00000513238.1:n.*182A>C
ENST00000697303.1:c.*265A>C	ENSP00000513239.1:n.*265A>C
ENST00000697304.1:c.585-6707A>C	ENSP00000513240.1:n.585-6707A>C
ENST00000697306.1:c.480+9520A>C	ENSP00000513241.1:n.480+9520A>C
ENST00000697307.1:c.661A>C	ENSP00000513242.1:p.Ile221Leu
ENST00000697308.1:c.661A>C	ENSP00000513243.1:p.Ile221Leu
ENST00000697309.1:c.661A>C	ENSP00000513244.1:p.Ile221Leu
ENST00000697310.1:c.661A>C	ENSP00000513245.1:p.Ile221Leu
ENST00000697311.1:c.661A>C	ENSP00000513246.1:p.Ile221Leu
ENST00000697312.1:c.*59A>C	ENSP00000513247.1:n.*59A>C
ENST00000697313.1:n.2452A>C
ENST00000697314.1:n.2452A>C
ENST00000697315.1:c.661A>C	ENSP00000513248.1:p.Ile221Leu
ENST00000697316.1:n.782A>C
ENST00000697317.1:n.771A>C
ENST00000697318.1:n.773A>C
ENST00000265433.8:c.661A>C MANE Select	ENSP00000265433.4:p.Ile221Leu
ENST00000265433.7:c.661A>C	ENSP00000265433.3:p.Ile221Leu
ENST00000396252.6:c.*534A>C	ENSP00000379551.2:n.*534A>C
ENST00000409330.5:c.415A>C	ENSP00000386924.1:p.Ile139Leu
ENST00000517772.5:c.415A>C	ENSP00000428717.1:p.Ile139Leu
ENST00000519426.5:c.397A>C	ENSP00000430983.1:p.Ile133Leu
NM_001024688.2:c.415A>C	NP_001019859.1:p.Ile139Leu
NM_002485.4:c.661A>C , LRG_158t1:c.661A>C	NP_002476.2:p.Ile221Leu
XM_011517044.1:c.637A>C	XP_011515346.1:p.Ile213Leu
XM_011517045.1:c.415A>C	XP_011515347.1:p.Ile139Leu
XM_011517046.1:c.661A>C	XP_011515348.1:p.Ile221Leu
XR_928335.1:n.798A>C
XM_017013460.1:c.-219A>C	XP_016868949.1:n.-219A>C
XM_017013462.2:c.-219A>C	XP_016868951.1:n.-219A>C
XM_024447163.1:c.415A>C	XP_024302931.1:p.Ile139Leu
XM_024447164.1:c.415A>C	XP_024302932.1:p.Ile139Leu
XM_024447165.1:c.-219A>C	XP_024302933.1:n.-219A>C
NM_002485.5:c.661A>C MANE Select	NP_002476.2:p.Ile221Leu
NM_001024688.3:c.415A>C	NP_001019859.1:p.Ile139Leu