Canonical Allele Identifier: CA371674777

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90949273G>T (hg19) ; chr8:g.89937045G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937045G>T , CM000670.2:g.89937045G>T	GRCh38
NC_000008.10:g.90949273G>T , CM000670.1:g.90949273G>T	GRCh37
NC_000008.9:g.91018449G>T	NCBI36
NG_008860.1:g.52627C>A , LRG_158:g.52627C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3635C>A
ENST00000494804.2:n.3517C>A
ENST00000517337.2:c.1969C>A	ENSP00000429971.2:p.Leu657Ile
ENST00000523444.2:c.1969C>A	ENSP00000428252.2:p.Leu657Ile
ENST00000697292.1:c.2215C>A	ENSP00000513229.1:p.Leu739Ile
ENST00000697293.1:c.2266C>A	ENSP00000513230.1:p.Leu756Ile
ENST00000697294.1:c.*1826C>A	ENSP00000513231.1:n.*1826C>A
ENST00000697295.1:c.*1524C>A	ENSP00000513232.1:n.*1524C>A
ENST00000697296.1:c.*1883C>A	ENSP00000513233.1:n.*1883C>A
ENST00000697297.1:n.4000C>A
ENST00000697298.1:c.1969C>A	ENSP00000513234.1:p.Leu657Ile
ENST00000697299.1:c.1969C>A	ENSP00000513235.1:p.Leu657Ile
ENST00000697300.1:c.*1819C>A	ENSP00000513236.1:n.*1819C>A
ENST00000697301.1:c.*1736C>A	ENSP00000513237.1:n.*1736C>A
ENST00000697302.1:c.*1736C>A	ENSP00000513238.1:n.*1736C>A
ENST00000697303.1:c.*1819C>A	ENSP00000513239.1:n.*1819C>A
ENST00000697304.1:c.1903C>A	ENSP00000513240.1:p.Leu635Ile
ENST00000697305.1:n.2482C>A
ENST00000697306.1:c.*2766C>A	ENSP00000513241.1:n.*2766C>A
ENST00000697307.1:c.1990C>A	ENSP00000513242.1:p.Leu664Ile
ENST00000697308.1:c.2146C>A	ENSP00000513243.1:p.Leu716Ile
ENST00000697309.1:c.2185-1433C>A	ENSP00000513244.1:n.2185-1433C>A
ENST00000697310.1:c.2215C>A	ENSP00000513245.1:p.Leu739Ile
ENST00000697311.1:c.*480C>A	ENSP00000513246.1:n.*480C>A
ENST00000697312.1:c.*1668C>A	ENSP00000513247.1:n.*1668C>A
ENST00000697313.1:n.2688-1433C>A
ENST00000697314.1:n.3637-1433C>A
ENST00000697315.1:c.*119C>A	ENSP00000513248.1:n.*119C>A
ENST00000697316.1:n.2336C>A
ENST00000265433.8:c.2215C>A MANE Select	ENSP00000265433.4:p.Leu739Ile
ENST00000265433.7:c.2215C>A	ENSP00000265433.3:p.Leu739Ile
ENST00000396252.6:c.*2088C>A	ENSP00000379551.2:n.*2088C>A
ENST00000409330.5:c.1969C>A	ENSP00000386924.1:p.Leu657Ile
ENST00000474821.1:n.303C>A
ENST00000613033.1:c.325C>A	ENSP00000484487.1:p.Leu109Ile
NM_001024688.2:c.1969C>A	NP_001019859.1:p.Leu657Ile
NM_002485.4:c.2215C>A , LRG_158t1:c.2215C>A	NP_002476.2:p.Leu739Ile
XM_011517044.1:c.2191C>A	XP_011515346.1:p.Leu731Ile
XM_011517045.1:c.1969C>A	XP_011515347.1:p.Leu657Ile
XM_017013460.1:c.1336C>A	XP_016868949.1:p.Leu446Ile
XM_017013462.2:c.1336C>A	XP_016868951.1:p.Leu446Ile
XM_024447163.1:c.1969C>A	XP_024302931.1:p.Leu657Ile
XM_024447164.1:c.1969C>A	XP_024302932.1:p.Leu657Ile
XM_024447165.1:c.1336C>A	XP_024302933.1:p.Leu446Ile
NM_002485.5:c.2215C>A MANE Select	NP_002476.2:p.Leu739Ile
NM_001024688.3:c.1969C>A	NP_001019859.1:p.Leu657Ile