Canonical Allele Identifier: CA461837802

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90958473T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946245T>C , CM000670.2:g.89946245T>C	GRCh38
NC_000008.10:g.90958473T>C , CM000670.1:g.90958473T>C	GRCh37
NC_000008.9:g.91027649T>C	NCBI36
NG_008860.1:g.43427A>G , LRG_158:g.43427A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.3267A>G
ENST00000517337.2:c.1719A>G	ENSP00000429971.2:p.Leu573=
ENST00000523444.2:c.1719A>G	ENSP00000428252.2:p.Leu573=
ENST00000697292.1:c.1965A>G	ENSP00000513229.1:p.Leu655=
ENST00000697293.1:c.1965A>G	ENSP00000513230.1:p.Leu655=
ENST00000697294.1:c.*1576A>G	ENSP00000513231.1:n.*1576A>G
ENST00000697295.1:c.*1274A>G	ENSP00000513232.1:n.*1274A>G
ENST00000697296.1:c.*1633A>G	ENSP00000513233.1:n.*1633A>G
ENST00000697297.1:n.3750A>G
ENST00000697298.1:c.1719A>G	ENSP00000513234.1:p.Leu573=
ENST00000697299.1:c.1719A>G	ENSP00000513235.1:p.Leu573=
ENST00000697300.1:c.*1569A>G	ENSP00000513236.1:n.*1569A>G
ENST00000697301.1:c.*1486A>G	ENSP00000513237.1:n.*1486A>G
ENST00000697302.1:c.*1486A>G	ENSP00000513238.1:n.*1486A>G
ENST00000697303.1:c.*1569A>G	ENSP00000513239.1:n.*1569A>G
ENST00000697304.1:c.1653A>G	ENSP00000513240.1:p.Leu551=
ENST00000697306.1:c.*2516A>G	ENSP00000513241.1:n.*2516A>G
ENST00000697307.1:c.1846-2879A>G	ENSP00000513242.1:n.1846-2879A>G
ENST00000697308.1:c.1896A>G	ENSP00000513243.1:p.Leu632=
ENST00000697309.1:c.1965A>G	ENSP00000513244.1:p.Leu655=
ENST00000697310.1:c.1965A>G	ENSP00000513245.1:p.Leu655=
ENST00000697311.1:c.1965A>G	ENSP00000513246.1:p.Leu655=
ENST00000697312.1:c.*1363A>G	ENSP00000513247.1:n.*1363A>G
ENST00000697313.1:n.2688-10633A>G
ENST00000697314.1:n.3636+6999A>G
ENST00000697315.1:c.1965A>G	ENSP00000513248.1:p.Leu655=
ENST00000697316.1:n.2086A>G
ENST00000697317.1:n.2056A>G
ENST00000265433.8:c.1965A>G MANE Select	ENSP00000265433.4:p.Leu655=
ENST00000265433.7:c.1965A>G	ENSP00000265433.3:p.Leu655=
ENST00000396252.6:c.*1838A>G	ENSP00000379551.2:n.*1838A>G
ENST00000409330.5:c.1719A>G	ENSP00000386924.1:p.Leu573=
ENST00000520325.1:n.381A>G
ENST00000613033.1:c.180+1579A>G	ENSP00000484487.1:n.180+1579A>G
NM_001024688.2:c.1719A>G	NP_001019859.1:p.Leu573=
NM_002485.4:c.1965A>G , LRG_158t1:c.1965A>G	NP_002476.2:p.Leu655=
XM_011517044.1:c.1941A>G	XP_011515346.1:p.Leu647=
XM_011517045.1:c.1719A>G	XP_011515347.1:p.Leu573=
XM_017013460.1:c.1086A>G	XP_016868949.1:p.Leu362=
XM_017013462.2:c.1086A>G	XP_016868951.1:p.Leu362=
XM_024447163.1:c.1719A>G	XP_024302931.1:p.Leu573=
XM_024447164.1:c.1719A>G	XP_024302932.1:p.Leu573=
XM_024447165.1:c.1086A>G	XP_024302933.1:p.Leu362=
NM_002485.5:c.1965A>G MANE Select	NP_002476.2:p.Leu655=
NM_001024688.3:c.1719A>G	NP_001019859.1:p.Leu573=