Canonical Allele Identifier: CA177431

Gene: NEBL

Linked Data

• ClinVar Variation Id: 138509
• ClinVar RCV Id: RCV000151533 ; RCV000469091 ; RCV000617843 ; RCV003925257
• dbSNP Id: rs71578956
• ExAC: 10:21104651 C / T
• gnomAD v2: 10-21104651-C-T
• gnomAD v3: 10-20815722-C-T
• gnomAD v4: 10-20815722-C-T
• COSMIC: COSM146902
• MyVariant Identifiers: chr10:g.21104651C>T (hg19) ; chr10:g.20815722C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.20815722C>T , CM000672.2:g.20815722C>T	GRCh38
NC_000010.10:g.21104651C>T , CM000672.1:g.21104651C>T	GRCh37
NC_000010.9:g.21144657C>T	NCBI36
NG_017092.1:g.363466G>A , LRG_411:g.363466G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377122.9:c.2149-5G>A MANE Select	ENSP00000366326.4:n.2149-5G>A
ENST00000675114.1:n.566-2782G>A
ENST00000675700.1:n.381-2782G>A
ENST00000675702.1:n.637-2782G>A
ENST00000676125.1:c.147-5G>A
ENST00000377122.8:c.2149-5G>A	ENSP00000366326.4:n.2149-5G>A
ENST00000417816.2:c.358-2782G>A	ENSP00000393896.2:n.358-2782G>A
ENST00000460652.1:c.307-5G>A
ENST00000473616.5:c.52-5G>A	ENSP00000489562.1:n.52-5G>A
ENST00000481592.5:c.284-5G>A	ENSP00000489545.1:n.284-5G>A
ENST00000492325.5:n.104G>A
ENST00000493005.5:n.1469-5G>A
NM_001173484.1:c.358-2782G>A	NP_001166955.1:n.358-2782G>A
NM_006393.2:c.2149-5G>A , LRG_411t2:c.2149-5G>A	NP_006384.1:n.2149-5G>A
NM_213569.2:c.358-2782G>A , LRG_411t1:c.358-2782G>A	NP_998734.1:n.358-2782G>A
XM_005252342.3:c.2047-5G>A	XP_005252399.1:n.2047-5G>A
XM_005252343.3:c.2149-5G>A	XP_005252400.1:n.2149-5G>A
XM_005252344.3:c.2149-5G>A	XP_005252401.1:n.2149-5G>A
XM_011519290.1:c.2101-5G>A	XP_011517592.1:n.2101-5G>A
XM_011519291.1:c.2101-5G>A	XP_011517593.1:n.2101-5G>A
XR_242691.3:n.2981-5G>A
XM_005252342.5:c.2047-5G>A	XP_005252399.1:n.2047-5G>A
XM_005252343.5:c.2149-5G>A	XP_005252400.1:n.2149-5G>A
XM_005252344.5:c.2149-5G>A	XP_005252401.1:n.2149-5G>A
XM_011519291.2:c.2101-5G>A	XP_011517593.1:n.2101-5G>A
XM_017015468.1:c.2101-5G>A	XP_016870957.1:n.2101-5G>A
XR_001746995.2:n.3747-5G>A
XR_242691.5:n.4465-5G>A
NM_001173484.2:c.358-2782G>A	NP_001166955.1:n.358-2782G>A
NM_001377322.1:c.358-2782G>A	NP_001364251.1:n.358-2782G>A
NM_001377323.1:c.310-2782G>A	NP_001364252.1:n.310-2782G>A
NM_001377324.1:c.301-2782G>A	NP_001364253.1:n.301-2782G>A
NM_001377325.1:c.292-2782G>A	NP_001364254.1:n.292-2782G>A
NM_001377326.1:c.250-2782G>A	NP_001364255.1:n.250-2782G>A
NM_001377327.1:c.250-2782G>A	NP_001364256.1:n.250-2782G>A
NM_001377328.1:c.250-2782G>A	NP_001364257.1:n.250-2782G>A
NM_006393.3:c.2149-5G>A MANE Select	NP_006384.1:n.2149-5G>A