Canonical Allele Identifier: CA371655589

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90965754G>T (hg19) ; chr8:g.89953526G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953526G>T , CM000670.2:g.89953526G>T	GRCh38
NC_000008.10:g.90965754G>T , CM000670.1:g.90965754G>T	GRCh37
NC_000008.9:g.91034930G>T	NCBI36
NG_008860.1:g.36146C>A , LRG_158:g.36146C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2865C>A
ENST00000517337.2:c.1317C>A	ENSP00000429971.2:p.Asn439Lys
ENST00000523444.2:c.1317C>A	ENSP00000428252.2:p.Asn439Lys
ENST00000697292.1:c.1563C>A	ENSP00000513229.1:p.Asn521Lys
ENST00000697293.1:c.1563C>A	ENSP00000513230.1:p.Asn521Lys
ENST00000697294.1:c.*1174C>A	ENSP00000513231.1:n.*1174C>A
ENST00000697295.1:c.*872C>A	ENSP00000513232.1:n.*872C>A
ENST00000697296.1:c.*1231C>A	ENSP00000513233.1:n.*1231C>A
ENST00000697297.1:n.3348C>A
ENST00000697298.1:c.1317C>A	ENSP00000513234.1:p.Asn439Lys
ENST00000697299.1:c.1317C>A	ENSP00000513235.1:p.Asn439Lys
ENST00000697300.1:c.*1167C>A	ENSP00000513236.1:n.*1167C>A
ENST00000697301.1:c.*1084C>A	ENSP00000513237.1:n.*1084C>A
ENST00000697302.1:c.*1084C>A	ENSP00000513238.1:n.*1084C>A
ENST00000697303.1:c.*1167C>A	ENSP00000513239.1:n.*1167C>A
ENST00000697304.1:c.1251C>A	ENSP00000513240.1:p.Asn417Lys
ENST00000697306.1:c.*563C>A	ENSP00000513241.1:n.*563C>A
ENST00000697307.1:c.1563C>A	ENSP00000513242.1:p.Asn521Lys
ENST00000697308.1:c.1563C>A	ENSP00000513243.1:p.Asn521Lys
ENST00000697309.1:c.1563C>A	ENSP00000513244.1:p.Asn521Lys
ENST00000697310.1:c.1563C>A	ENSP00000513245.1:p.Asn521Lys
ENST00000697311.1:c.1563C>A	ENSP00000513246.1:p.Asn521Lys
ENST00000697312.1:c.*961C>A	ENSP00000513247.1:n.*961C>A
ENST00000697313.1:n.2687+16838C>A
ENST00000697314.1:n.3354C>A
ENST00000697315.1:c.1563C>A	ENSP00000513248.1:p.Asn521Lys
ENST00000697316.1:n.1684C>A
ENST00000697317.1:n.1673C>A
ENST00000697318.1:n.1675C>A
ENST00000265433.8:c.1563C>A MANE Select	ENSP00000265433.4:p.Asn521Lys
ENST00000265433.7:c.1563C>A	ENSP00000265433.3:p.Asn521Lys
ENST00000396252.6:c.*1436C>A	ENSP00000379551.2:n.*1436C>A
ENST00000409330.5:c.1317C>A	ENSP00000386924.1:p.Asn439Lys
NM_001024688.2:c.1317C>A	NP_001019859.1:p.Asn439Lys
NM_002485.4:c.1563C>A , LRG_158t1:c.1563C>A	NP_002476.2:p.Asn521Lys
XM_011517044.1:c.1539C>A	XP_011515346.1:p.Asn513Lys
XM_011517045.1:c.1317C>A	XP_011515347.1:p.Asn439Lys
XR_928335.1:n.1702C>A
XM_017013460.1:c.684C>A	XP_016868949.1:p.Asn228Lys
XM_017013462.2:c.684C>A	XP_016868951.1:p.Asn228Lys
XM_024447163.1:c.1317C>A	XP_024302931.1:p.Asn439Lys
XM_024447164.1:c.1317C>A	XP_024302932.1:p.Asn439Lys
XM_024447165.1:c.684C>A	XP_024302933.1:p.Asn228Lys
NM_002485.5:c.1563C>A MANE Select	NP_002476.2:p.Asn521Lys
NM_001024688.3:c.1317C>A	NP_001019859.1:p.Asn439Lys