Canonical Allele Identifier: CA5433367

Gene: NEBL

Linked Data

• dbSNP Id: rs752942716
• ExAC: 10:21185902 C / T
• gnomAD v2: 10-21185902-C-T
• gnomAD v3: 10-20896973-C-T
• gnomAD v4: 10-20896973-C-T
• COSMIC: COSM1321421 ; COSM3397041
• MyVariant Identifiers: chr10:g.21185902C>T (hg19) ; chr10:g.20896973C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.20896973C>T , CM000672.2:g.20896973C>T	GRCh38
NC_000010.10:g.21185902C>T , CM000672.1:g.21185902C>T	GRCh37
NC_000010.9:g.21225908C>T	NCBI36
NG_017092.1:g.282215G>A , LRG_411:g.282215G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377122.9:c.138G>A MANE Select	ENSP00000366326.4:p.Thr46=
ENST00000674540.1:n.425G>A
ENST00000675114.1:n.565+64699G>A
ENST00000675700.1:n.380+64699G>A
ENST00000675702.1:n.636+64699G>A
ENST00000675747.1:n.2500G>A
ENST00000377119.5:n.148G>A
ENST00000377122.8:c.138G>A	ENSP00000366326.4:p.Thr46=
ENST00000417816.2:c.357+64699G>A	ENSP00000393896.2:n.357+64699G>A
ENST00000434381.1:c.90G>A	ENSP00000396512.1:p.Thr30=
NM_001173484.1:c.357+64699G>A	NP_001166955.1:n.357+64699G>A
NM_006393.2:c.138G>A , LRG_411t2:c.138G>A	NP_006384.1:p.Thr46=
NM_213569.2:c.357+64699G>A , LRG_411t1:c.357+64699G>A	NP_998734.1:n.357+64699G>A
XM_005252342.3:c.138G>A	XP_005252399.1:p.Thr46=
XM_005252343.3:c.138G>A	XP_005252400.1:p.Thr46=
XM_005252344.3:c.138G>A	XP_005252401.1:p.Thr46=
XM_011519290.1:c.90G>A	XP_011517592.1:p.Thr30=
XM_011519291.1:c.90G>A	XP_011517593.1:p.Thr30=
XR_242691.3:n.250G>A
XM_005252342.5:c.138G>A	XP_005252399.1:p.Thr46=
XM_005252343.5:c.138G>A	XP_005252400.1:p.Thr46=
XM_005252344.5:c.138G>A	XP_005252401.1:p.Thr46=
XM_011519291.2:c.90G>A	XP_011517593.1:p.Thr30=
XM_017015468.1:c.90G>A	XP_016870957.1:p.Thr30=
XR_001746995.2:n.1734G>A
XR_001746996.1:n.453G>A
XR_242691.5:n.1734G>A
NM_001173484.2:c.357+64699G>A	NP_001166955.1:n.357+64699G>A
NM_001377322.1:c.357+64699G>A	NP_001364251.1:n.357+64699G>A
NM_001377323.1:c.309+64699G>A	NP_001364252.1:n.309+64699G>A
NM_001377324.1:c.300+64699G>A	NP_001364253.1:n.300+64699G>A
NM_001377325.1:c.291+64699G>A	NP_001364254.1:n.291+64699G>A
NM_001377326.1:c.249+64699G>A	NP_001364255.1:n.249+64699G>A
NM_001377327.1:c.249+64699G>A	NP_001364256.1:n.249+64699G>A
NM_001377328.1:c.249+64699G>A	NP_001364257.1:n.249+64699G>A
NM_006393.3:c.138G>A MANE Select	NP_006384.1:p.Thr46=