Canonical Allele Identifier: CA371655384

Gene: NBN

Linked Data

• ClinVar Variation Id: 578384
• ClinVar RCV Id: RCV000701373
• dbSNP Id: rs746347634
• MyVariant Identifiers: chr8:g.90965660T>A (hg19) ; chr8:g.89953432T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953432T>A , CM000670.2:g.89953432T>A	GRCh38
NC_000008.10:g.90965660T>A , CM000670.1:g.90965660T>A	GRCh37
NC_000008.9:g.91034836T>A	NCBI36
NG_008860.1:g.36240A>T , LRG_158:g.36240A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2959A>T
ENST00000517337.2:c.1411A>T	ENSP00000429971.2:p.Met471Leu
ENST00000523444.2:c.1411A>T	ENSP00000428252.2:p.Met471Leu
ENST00000697292.1:c.1657A>T	ENSP00000513229.1:p.Met553Leu
ENST00000697293.1:c.1657A>T	ENSP00000513230.1:p.Met553Leu
ENST00000697294.1:c.*1268A>T	ENSP00000513231.1:n.*1268A>T
ENST00000697295.1:c.*966A>T	ENSP00000513232.1:n.*966A>T
ENST00000697296.1:c.*1325A>T	ENSP00000513233.1:n.*1325A>T
ENST00000697297.1:n.3442A>T
ENST00000697298.1:c.1411A>T	ENSP00000513234.1:p.Met471Leu
ENST00000697299.1:c.1411A>T	ENSP00000513235.1:p.Met471Leu
ENST00000697300.1:c.*1261A>T	ENSP00000513236.1:n.*1261A>T
ENST00000697301.1:c.*1178A>T	ENSP00000513237.1:n.*1178A>T
ENST00000697302.1:c.*1178A>T	ENSP00000513238.1:n.*1178A>T
ENST00000697303.1:c.*1261A>T	ENSP00000513239.1:n.*1261A>T
ENST00000697304.1:c.1345A>T	ENSP00000513240.1:p.Met449Leu
ENST00000697306.1:c.*657A>T	ENSP00000513241.1:n.*657A>T
ENST00000697307.1:c.1657A>T	ENSP00000513242.1:p.Met553Leu
ENST00000697308.1:c.1657A>T	ENSP00000513243.1:p.Met553Leu
ENST00000697309.1:c.1657A>T	ENSP00000513244.1:p.Met553Leu
ENST00000697310.1:c.1657A>T	ENSP00000513245.1:p.Met553Leu
ENST00000697311.1:c.1657A>T	ENSP00000513246.1:p.Met553Leu
ENST00000697312.1:c.*1055A>T	ENSP00000513247.1:n.*1055A>T
ENST00000697313.1:n.2687+16932A>T
ENST00000697314.1:n.3448A>T
ENST00000697315.1:c.1657A>T	ENSP00000513248.1:p.Met553Leu
ENST00000697316.1:n.1778A>T
ENST00000697317.1:n.1767A>T
ENST00000697318.1:n.1769A>T
ENST00000265433.8:c.1657A>T MANE Select	ENSP00000265433.4:p.Met553Leu
ENST00000265433.7:c.1657A>T	ENSP00000265433.3:p.Met553Leu
ENST00000396252.6:c.*1530A>T	ENSP00000379551.2:n.*1530A>T
ENST00000409330.5:c.1411A>T	ENSP00000386924.1:p.Met471Leu
NM_001024688.2:c.1411A>T	NP_001019859.1:p.Met471Leu
NM_002485.4:c.1657A>T , LRG_158t1:c.1657A>T	NP_002476.2:p.Met553Leu
XM_011517044.1:c.1633A>T	XP_011515346.1:p.Met545Leu
XM_011517045.1:c.1411A>T	XP_011515347.1:p.Met471Leu
XR_928335.1:n.1796A>T
XM_017013460.1:c.778A>T	XP_016868949.1:p.Met260Leu
XM_017013462.2:c.778A>T	XP_016868951.1:p.Met260Leu
XM_024447163.1:c.1411A>T	XP_024302931.1:p.Met471Leu
XM_024447164.1:c.1411A>T	XP_024302932.1:p.Met471Leu
XM_024447165.1:c.778A>T	XP_024302933.1:p.Met260Leu
NM_002485.5:c.1657A>T MANE Select	NP_002476.2:p.Met553Leu
NM_001024688.3:c.1411A>T	NP_001019859.1:p.Met471Leu