Canonical Allele Identifier: CA371674792

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90949281T>A (hg19) ; chr8:g.89937053T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937053T>A , CM000670.2:g.89937053T>A	GRCh38
NC_000008.10:g.90949281T>A , CM000670.1:g.90949281T>A	GRCh37
NC_000008.9:g.91018457T>A	NCBI36
NG_008860.1:g.52619A>T , LRG_158:g.52619A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3627A>T
ENST00000494804.2:n.3509A>T
ENST00000517337.2:c.1961A>T	ENSP00000429971.2:p.Glu654Val
ENST00000523444.2:c.1961A>T	ENSP00000428252.2:p.Glu654Val
ENST00000697292.1:c.2207A>T	ENSP00000513229.1:p.Glu736Val
ENST00000697293.1:c.2258A>T	ENSP00000513230.1:p.Glu753Val
ENST00000697294.1:c.*1818A>T	ENSP00000513231.1:n.*1818A>T
ENST00000697295.1:c.*1516A>T	ENSP00000513232.1:n.*1516A>T
ENST00000697296.1:c.*1875A>T	ENSP00000513233.1:n.*1875A>T
ENST00000697297.1:n.3992A>T
ENST00000697298.1:c.1961A>T	ENSP00000513234.1:p.Glu654Val
ENST00000697299.1:c.1961A>T	ENSP00000513235.1:p.Glu654Val
ENST00000697300.1:c.*1811A>T	ENSP00000513236.1:n.*1811A>T
ENST00000697301.1:c.*1728A>T	ENSP00000513237.1:n.*1728A>T
ENST00000697302.1:c.*1728A>T	ENSP00000513238.1:n.*1728A>T
ENST00000697303.1:c.*1811A>T	ENSP00000513239.1:n.*1811A>T
ENST00000697304.1:c.1895A>T	ENSP00000513240.1:p.Glu632Val
ENST00000697305.1:n.2474A>T
ENST00000697306.1:c.*2758A>T	ENSP00000513241.1:n.*2758A>T
ENST00000697307.1:c.1982A>T	ENSP00000513242.1:p.Glu661Val
ENST00000697308.1:c.2138A>T	ENSP00000513243.1:p.Glu713Val
ENST00000697309.1:c.2185-1441A>T	ENSP00000513244.1:n.2185-1441A>T
ENST00000697310.1:c.2207A>T	ENSP00000513245.1:p.Glu736Val
ENST00000697311.1:c.*472A>T	ENSP00000513246.1:n.*472A>T
ENST00000697312.1:c.*1660A>T	ENSP00000513247.1:n.*1660A>T
ENST00000697313.1:n.2688-1441A>T
ENST00000697314.1:n.3637-1441A>T
ENST00000697315.1:c.*111A>T	ENSP00000513248.1:n.*111A>T
ENST00000697316.1:n.2328A>T
ENST00000265433.8:c.2207A>T MANE Select	ENSP00000265433.4:p.Glu736Val
ENST00000265433.7:c.2207A>T	ENSP00000265433.3:p.Glu736Val
ENST00000396252.6:c.*2080A>T	ENSP00000379551.2:n.*2080A>T
ENST00000409330.5:c.1961A>T	ENSP00000386924.1:p.Glu654Val
ENST00000474821.1:n.295A>T
ENST00000613033.1:c.317A>T	ENSP00000484487.1:p.Glu106Val
NM_001024688.2:c.1961A>T	NP_001019859.1:p.Glu654Val
NM_002485.4:c.2207A>T , LRG_158t1:c.2207A>T	NP_002476.2:p.Glu736Val
XM_011517044.1:c.2183A>T	XP_011515346.1:p.Glu728Val
XM_011517045.1:c.1961A>T	XP_011515347.1:p.Glu654Val
XM_017013460.1:c.1328A>T	XP_016868949.1:p.Glu443Val
XM_017013462.2:c.1328A>T	XP_016868951.1:p.Glu443Val
XM_024447163.1:c.1961A>T	XP_024302931.1:p.Glu654Val
XM_024447164.1:c.1961A>T	XP_024302932.1:p.Glu654Val
XM_024447165.1:c.1328A>T	XP_024302933.1:p.Glu443Val
NM_002485.5:c.2207A>T MANE Select	NP_002476.2:p.Glu736Val
NM_001024688.3:c.1961A>T	NP_001019859.1:p.Glu654Val