Canonical Allele Identifier: CA371677255

Gene: NBN

Linked Data

• gnomAD v4: 8-89947861-A-G
• MyVariant Identifiers: chr8:g.90960089A>G (hg19) ; chr8:g.89947861A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947861A>G , CM000670.2:g.89947861A>G	GRCh38
NC_000008.10:g.90960089A>G , CM000670.1:g.90960089A>G	GRCh37
NC_000008.9:g.91029265A>G	NCBI36
NG_008860.1:g.41811T>C , LRG_158:g.41811T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3179T>C
ENST00000517337.2:c.1631T>C	ENSP00000429971.2:p.Leu544Pro
ENST00000523444.2:c.1631T>C	ENSP00000428252.2:p.Leu544Pro
ENST00000697292.1:c.1877T>C	ENSP00000513229.1:p.Leu626Pro
ENST00000697293.1:c.1877T>C	ENSP00000513230.1:p.Leu626Pro
ENST00000697294.1:c.*1488T>C	ENSP00000513231.1:n.*1488T>C
ENST00000697295.1:c.*1186T>C	ENSP00000513232.1:n.*1186T>C
ENST00000697296.1:c.*1545T>C	ENSP00000513233.1:n.*1545T>C
ENST00000697297.1:n.3662T>C
ENST00000697298.1:c.1631T>C	ENSP00000513234.1:p.Leu544Pro
ENST00000697299.1:c.1631T>C	ENSP00000513235.1:p.Leu544Pro
ENST00000697300.1:c.*1481T>C	ENSP00000513236.1:n.*1481T>C
ENST00000697301.1:c.*1398T>C	ENSP00000513237.1:n.*1398T>C
ENST00000697302.1:c.*1398T>C	ENSP00000513238.1:n.*1398T>C
ENST00000697303.1:c.*1481T>C	ENSP00000513239.1:n.*1481T>C
ENST00000697304.1:c.1565T>C	ENSP00000513240.1:p.Leu522Pro
ENST00000697306.1:c.*900T>C	ENSP00000513241.1:n.*900T>C
ENST00000697307.1:c.1846-4495T>C	ENSP00000513242.1:n.1846-4495T>C
ENST00000697308.1:c.1846-1566T>C	ENSP00000513243.1:n.1846-1566T>C
ENST00000697309.1:c.1877T>C	ENSP00000513244.1:p.Leu626Pro
ENST00000697310.1:c.1877T>C	ENSP00000513245.1:p.Leu626Pro
ENST00000697311.1:c.1877T>C	ENSP00000513246.1:p.Leu626Pro
ENST00000697312.1:c.*1275T>C	ENSP00000513247.1:n.*1275T>C
ENST00000697313.1:n.2688-12249T>C
ENST00000697314.1:n.3636+5383T>C
ENST00000697315.1:c.1877T>C	ENSP00000513248.1:p.Leu626Pro
ENST00000697316.1:n.1998T>C
ENST00000697317.1:n.1987T>C
ENST00000265433.8:c.1877T>C MANE Select	ENSP00000265433.4:p.Leu626Pro
ENST00000265433.7:c.1877T>C	ENSP00000265433.3:p.Leu626Pro
ENST00000396252.6:c.*1750T>C	ENSP00000379551.2:n.*1750T>C
ENST00000409330.5:c.1631T>C	ENSP00000386924.1:p.Leu544Pro
ENST00000613033.1:c.143T>C	ENSP00000484487.1:p.Leu48Pro
NM_001024688.2:c.1631T>C	NP_001019859.1:p.Leu544Pro
NM_002485.4:c.1877T>C , LRG_158t1:c.1877T>C	NP_002476.2:p.Leu626Pro
XM_011517044.1:c.1853T>C	XP_011515346.1:p.Leu618Pro
XM_011517045.1:c.1631T>C	XP_011515347.1:p.Leu544Pro
XR_928335.1:n.2016T>C
XM_017013460.1:c.998T>C	XP_016868949.1:p.Leu333Pro
XM_017013462.2:c.998T>C	XP_016868951.1:p.Leu333Pro
XM_024447163.1:c.1631T>C	XP_024302931.1:p.Leu544Pro
XM_024447164.1:c.1631T>C	XP_024302932.1:p.Leu544Pro
XM_024447165.1:c.998T>C	XP_024302933.1:p.Leu333Pro
NM_002485.5:c.1877T>C MANE Select	NP_002476.2:p.Leu626Pro
NM_001024688.3:c.1631T>C	NP_001019859.1:p.Leu544Pro