Canonical Allele Identifier: CA371677276

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90960099T>A (hg19) ; chr8:g.89947871T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947871T>A , CM000670.2:g.89947871T>A	GRCh38
NC_000008.10:g.90960099T>A , CM000670.1:g.90960099T>A	GRCh37
NC_000008.9:g.91029275T>A	NCBI36
NG_008860.1:g.41801A>T , LRG_158:g.41801A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.3169A>T
ENST00000517337.2:c.1621A>T	ENSP00000429971.2:p.Lys541Ter
ENST00000523444.2:c.1621A>T	ENSP00000428252.2:p.Lys541Ter
ENST00000697292.1:c.1867A>T	ENSP00000513229.1:p.Lys623Ter
ENST00000697293.1:c.1867A>T	ENSP00000513230.1:p.Lys623Ter
ENST00000697294.1:c.*1478A>T	ENSP00000513231.1:n.*1478A>T
ENST00000697295.1:c.*1176A>T	ENSP00000513232.1:n.*1176A>T
ENST00000697296.1:c.*1535A>T	ENSP00000513233.1:n.*1535A>T
ENST00000697297.1:n.3652A>T
ENST00000697298.1:c.1621A>T	ENSP00000513234.1:p.Lys541Ter
ENST00000697299.1:c.1621A>T	ENSP00000513235.1:p.Lys541Ter
ENST00000697300.1:c.*1471A>T	ENSP00000513236.1:n.*1471A>T
ENST00000697301.1:c.*1388A>T	ENSP00000513237.1:n.*1388A>T
ENST00000697302.1:c.*1388A>T	ENSP00000513238.1:n.*1388A>T
ENST00000697303.1:c.*1471A>T	ENSP00000513239.1:n.*1471A>T
ENST00000697304.1:c.1555A>T	ENSP00000513240.1:p.Lys519Ter
ENST00000697306.1:c.*890A>T	ENSP00000513241.1:n.*890A>T
ENST00000697307.1:c.1846-4505A>T	ENSP00000513242.1:n.1846-4505A>T
ENST00000697308.1:c.1846-1576A>T	ENSP00000513243.1:n.1846-1576A>T
ENST00000697309.1:c.1867A>T	ENSP00000513244.1:p.Lys623Ter
ENST00000697310.1:c.1867A>T	ENSP00000513245.1:p.Lys623Ter
ENST00000697311.1:c.1867A>T	ENSP00000513246.1:p.Lys623Ter
ENST00000697312.1:c.*1265A>T	ENSP00000513247.1:n.*1265A>T
ENST00000697313.1:n.2688-12259A>T
ENST00000697314.1:n.3636+5373A>T
ENST00000697315.1:c.1867A>T	ENSP00000513248.1:p.Lys623Ter
ENST00000697316.1:n.1988A>T
ENST00000697317.1:n.1977A>T
ENST00000265433.8:c.1867A>T MANE Select	ENSP00000265433.4:p.Lys623Ter
ENST00000265433.7:c.1867A>T	ENSP00000265433.3:p.Lys623Ter
ENST00000396252.6:c.*1740A>T	ENSP00000379551.2:n.*1740A>T
ENST00000409330.5:c.1621A>T	ENSP00000386924.1:p.Lys541Ter
ENST00000613033.1:c.133A>T	ENSP00000484487.1:p.Lys45Ter
NM_001024688.2:c.1621A>T	NP_001019859.1:p.Lys541Ter
NM_002485.4:c.1867A>T , LRG_158t1:c.1867A>T	NP_002476.2:p.Lys623Ter
XM_011517044.1:c.1843A>T	XP_011515346.1:p.Lys615Ter
XM_011517045.1:c.1621A>T	XP_011515347.1:p.Lys541Ter
XR_928335.1:n.2006A>T
XM_017013460.1:c.988A>T	XP_016868949.1:p.Lys330Ter
XM_017013462.2:c.988A>T	XP_016868951.1:p.Lys330Ter
XM_024447163.1:c.1621A>T	XP_024302931.1:p.Lys541Ter
XM_024447164.1:c.1621A>T	XP_024302932.1:p.Lys541Ter
XM_024447165.1:c.988A>T	XP_024302933.1:p.Lys330Ter
NM_002485.5:c.1867A>T MANE Select	NP_002476.2:p.Lys623Ter
NM_001024688.3:c.1621A>T	NP_001019859.1:p.Lys541Ter