Canonical Allele Identifier: CA371674799

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90949284T>A (hg19) ; chr8:g.89937056T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937056T>A , CM000670.2:g.89937056T>A	GRCh38
NC_000008.10:g.90949284T>A , CM000670.1:g.90949284T>A	GRCh37
NC_000008.9:g.91018460T>A	NCBI36
NG_008860.1:g.52616A>T , LRG_158:g.52616A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3624A>T
ENST00000494804.2:n.3506A>T
ENST00000517337.2:c.1958A>T	ENSP00000429971.2:p.Lys653Ile
ENST00000523444.2:c.1958A>T	ENSP00000428252.2:p.Lys653Ile
ENST00000697292.1:c.2204A>T	ENSP00000513229.1:p.Lys735Ile
ENST00000697293.1:c.2255A>T	ENSP00000513230.1:p.Lys752Ile
ENST00000697294.1:c.*1815A>T	ENSP00000513231.1:n.*1815A>T
ENST00000697295.1:c.*1513A>T	ENSP00000513232.1:n.*1513A>T
ENST00000697296.1:c.*1872A>T	ENSP00000513233.1:n.*1872A>T
ENST00000697297.1:n.3989A>T
ENST00000697298.1:c.1958A>T	ENSP00000513234.1:p.Lys653Ile
ENST00000697299.1:c.1958A>T	ENSP00000513235.1:p.Lys653Ile
ENST00000697300.1:c.*1808A>T	ENSP00000513236.1:n.*1808A>T
ENST00000697301.1:c.*1725A>T	ENSP00000513237.1:n.*1725A>T
ENST00000697302.1:c.*1725A>T	ENSP00000513238.1:n.*1725A>T
ENST00000697303.1:c.*1808A>T	ENSP00000513239.1:n.*1808A>T
ENST00000697304.1:c.1892A>T	ENSP00000513240.1:p.Lys631Ile
ENST00000697305.1:n.2471A>T
ENST00000697306.1:c.*2755A>T	ENSP00000513241.1:n.*2755A>T
ENST00000697307.1:c.1979A>T	ENSP00000513242.1:p.Lys660Ile
ENST00000697308.1:c.2135A>T	ENSP00000513243.1:p.Lys712Ile
ENST00000697309.1:c.2185-1444A>T	ENSP00000513244.1:n.2185-1444A>T
ENST00000697310.1:c.2204A>T	ENSP00000513245.1:p.Lys735Ile
ENST00000697311.1:c.*469A>T	ENSP00000513246.1:n.*469A>T
ENST00000697312.1:c.*1657A>T	ENSP00000513247.1:n.*1657A>T
ENST00000697313.1:n.2688-1444A>T
ENST00000697314.1:n.3637-1444A>T
ENST00000697315.1:c.*108A>T	ENSP00000513248.1:n.*108A>T
ENST00000697316.1:n.2325A>T
ENST00000265433.8:c.2204A>T MANE Select	ENSP00000265433.4:p.Lys735Ile
ENST00000265433.7:c.2204A>T	ENSP00000265433.3:p.Lys735Ile
ENST00000396252.6:c.*2077A>T	ENSP00000379551.2:n.*2077A>T
ENST00000409330.5:c.1958A>T	ENSP00000386924.1:p.Lys653Ile
ENST00000474821.1:n.292A>T
ENST00000613033.1:c.314A>T	ENSP00000484487.1:p.Lys105Ile
NM_001024688.2:c.1958A>T	NP_001019859.1:p.Lys653Ile
NM_002485.4:c.2204A>T , LRG_158t1:c.2204A>T	NP_002476.2:p.Lys735Ile
XM_011517044.1:c.2180A>T	XP_011515346.1:p.Lys727Ile
XM_011517045.1:c.1958A>T	XP_011515347.1:p.Lys653Ile
XM_017013460.1:c.1325A>T	XP_016868949.1:p.Lys442Ile
XM_017013462.2:c.1325A>T	XP_016868951.1:p.Lys442Ile
XM_024447163.1:c.1958A>T	XP_024302931.1:p.Lys653Ile
XM_024447164.1:c.1958A>T	XP_024302932.1:p.Lys653Ile
XM_024447165.1:c.1325A>T	XP_024302933.1:p.Lys442Ile
NM_002485.5:c.2204A>T MANE Select	NP_002476.2:p.Lys735Ile
NM_001024688.3:c.1958A>T	NP_001019859.1:p.Lys653Ile