Canonical Allele Identifier: CA136414
Community Standard Title: NM_006393.3(NEBL):c.1861A>G (p.Ile621Val)
Gene: NEBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.20826455T>C , CM000672.2:g.20826455T>C GRCh38
NC_000010.10:g.21115384T>C , CM000672.1:g.21115384T>C GRCh37
NC_000010.9:g.21155390T>C NCBI36
NG_017092.1:g.352733A>G , LRG_411:g.352733A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006393.3:c.1861A>G MANE Select NP_006384.1:p.Ile621Val
ENST00000377122.9:c.1861A>G MANE Select ENSP00000366326.4:p.Ile621Val
NM_001173484.1:c.358-13515A>G NP_001166955.1:n.358-13515A>G
NM_001173484.2:c.358-13515A>G NP_001166955.1:n.358-13515A>G
NM_001377322.1:c.358-13515A>G NP_001364251.1:n.358-13515A>G
NM_001377323.1:c.310-13515A>G NP_001364252.1:n.310-13515A>G
NM_001377324.1:c.301-13515A>G NP_001364253.1:n.301-13515A>G
NM_001377325.1:c.292-13515A>G NP_001364254.1:n.292-13515A>G
NM_001377326.1:c.250-13515A>G NP_001364255.1:n.250-13515A>G
NM_001377327.1:c.250-13515A>G NP_001364256.1:n.250-13515A>G
NM_001377328.1:c.250-13515A>G NP_001364257.1:n.250-13515A>G
NM_006393.2:c.1861A>G , LRG_411t2:c.1861A>G NP_006384.1:p.Ile621Val
NM_213569.2:c.358-13515A>G , LRG_411t1:c.358-13515A>G NP_998734.1:n.358-13515A>G
ENST00000377122.8:c.1861A>G ENSP00000366326.4:p.Ile621Val
ENST00000417816.2:c.358-13515A>G ENSP00000393896.2:n.358-13515A>G
ENST00000460652.1:c.17A>G
ENST00000493005.5:n.461A>G
ENST00000675114.1:n.566-13515A>G
ENST00000675700.1:n.381-13515A>G
ENST00000675702.1:n.637-13515A>G
ENST00000675747.1:n.4223A>G
XM_005252342.3:c.1759A>G XP_005252399.1:p.Ile587Val
XM_005252342.5:c.1759A>G XP_005252399.1:p.Ile587Val
XM_005252343.3:c.1861A>G XP_005252400.1:p.Ile621Val
XM_005252343.5:c.1861A>G XP_005252400.1:p.Ile621Val
XM_005252344.3:c.1861A>G XP_005252401.1:p.Ile621Val
XM_005252344.5:c.1861A>G XP_005252401.1:p.Ile621Val
XM_011519290.1:c.1813A>G XP_011517592.1:p.Ile605Val
XM_011519291.1:c.1813A>G XP_011517593.1:p.Ile605Val
XM_011519291.2:c.1813A>G XP_011517593.1:p.Ile605Val
XM_017015468.1:c.1813A>G XP_016870957.1:p.Ile605Val
XR_001746995.2:n.3457A>G
XR_001746996.1:n.2176A>G
XR_242691.3:n.1973A>G
XR_242691.5:n.3457A>G