Canonical Allele Identifier: CA335370

Gene: NEBL

Linked Data

• ClinVar Variation Id: 201909
• ClinVar RCV Id: RCV000183638 ; RCV000704803 ; RCV004020231
• dbSNP Id: rs371551337
• ExAC: 10:21106576 G / T
• gnomAD v2: 10-21106576-G-T
• gnomAD v3: 10-20817647-G-T
• gnomAD v4: 10-20817647-G-T
• MyVariant Identifiers: chr10:g.21106576G>T (hg19) ; chr10:g.20817647G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.20817647G>T , CM000672.2:g.20817647G>T	GRCh38
NC_000010.10:g.21106576G>T , CM000672.1:g.21106576G>T	GRCh37
NC_000010.9:g.21146582G>T	NCBI36
NG_017092.1:g.361541C>A , LRG_411:g.361541C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377122.9:c.2101C>A MANE Select	ENSP00000366326.4:p.Pro701Thr
ENST00000675114.1:n.566-4707C>A
ENST00000675700.1:n.381-4707C>A
ENST00000675702.1:n.637-4707C>A
ENST00000676125.1:c.99C>A
ENST00000377122.8:c.2101C>A	ENSP00000366326.4:p.Pro701Thr
ENST00000417816.2:c.358-4707C>A	ENSP00000393896.2:n.358-4707C>A
ENST00000460652.1:c.257C>A
ENST00000473616.5:c.4C>A	ENSP00000489562.1:p.Pro2Thr
ENST00000481592.5:c.234C>A	ENSP00000489545.1:n.234C>A
ENST00000493005.5:n.1421C>A
NM_001173484.1:c.358-4707C>A	NP_001166955.1:n.358-4707C>A
NM_006393.2:c.2101C>A , LRG_411t2:c.2101C>A	NP_006384.1:p.Pro701Thr
NM_213569.2:c.358-4707C>A , LRG_411t1:c.358-4707C>A	NP_998734.1:n.358-4707C>A
XM_005252342.3:c.1999C>A	XP_005252399.1:p.Pro667Thr
XM_005252343.3:c.2101C>A	XP_005252400.1:p.Pro701Thr
XM_005252344.3:c.2101C>A	XP_005252401.1:p.Pro701Thr
XM_011519290.1:c.2053C>A	XP_011517592.1:p.Pro685Thr
XM_011519291.1:c.2053C>A	XP_011517593.1:p.Pro685Thr
XR_242691.3:n.2933C>A
XM_005252342.5:c.1999C>A	XP_005252399.1:p.Pro667Thr
XM_005252343.5:c.2101C>A	XP_005252400.1:p.Pro701Thr
XM_005252344.5:c.2101C>A	XP_005252401.1:p.Pro701Thr
XM_011519291.2:c.2053C>A	XP_011517593.1:p.Pro685Thr
XM_017015468.1:c.2053C>A	XP_016870957.1:p.Pro685Thr
XR_001746995.2:n.3697C>A
XR_001746996.1:n.3136C>A
XR_242691.5:n.4417C>A
NM_001173484.2:c.358-4707C>A	NP_001166955.1:n.358-4707C>A
NM_001377322.1:c.358-4707C>A	NP_001364251.1:n.358-4707C>A
NM_001377323.1:c.310-4707C>A	NP_001364252.1:n.310-4707C>A
NM_001377324.1:c.301-4707C>A	NP_001364253.1:n.301-4707C>A
NM_001377325.1:c.292-4707C>A	NP_001364254.1:n.292-4707C>A
NM_001377326.1:c.250-4707C>A	NP_001364255.1:n.250-4707C>A
NM_001377327.1:c.250-4707C>A	NP_001364256.1:n.250-4707C>A
NM_001377328.1:c.250-4707C>A	NP_001364257.1:n.250-4707C>A
NM_006393.3:c.2101C>A MANE Select	NP_006384.1:p.Pro701Thr