Canonical Allele Identifier: CA10654758
Gene: NIPBL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 369665
ClinVar RCV Id: RCV000408616
dbSNP Id: rs1057516034

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37052453C>T , CM000667.2:g.37052453C>T GRCh38
NC_000005.9:g.37052555C>T , CM000667.1:g.37052555C>T GRCh37
NC_000005.8:g.37088312C>T NCBI36
NG_006987.1:g.180571C>T
NG_006987.2:g.180571C>T

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.7150C>T VV NP_056199.2:p.Gln2384Ter
NM_133433.3:c.7150C>T VV NP_597677.2:p.Gln2384Ter
XM_005248280.2:c.7150C>T XP_005248337.1:p.Gln2384Ter
XM_005248282.3:c.6406C>T XP_005248339.2:p.Gln2136Ter
XM_006714467.2:c.7150C>T XP_006714530.1:p.Gln2384Ter
XM_006714468.1:c.6952C>T XP_006714531.1:p.Gln2318Ter
XM_011514014.1:c.6769C>T XP_011512316.1:p.Gln2257Ter
XM_011514015.1:c.7150C>T XP_011512317.1:p.Gln2384Ter
XM_005248280.3:c.7150C>T
XM_005248282.5:c.6490C>T XP_005248339.3:p.Gln2164Ter
XM_006714468.2:c.6952C>T
XM_017009329.1:c.7150C>T XP_016864818.1:p.Gln2384Ter
XM_017009330.2:c.5533C>T XP_016864819.1:p.Gln1845Ter
XM_017009331.1:c.5524C>T XP_016864820.1:p.Gln1842Ter
NM_133433.4:c.7150C>T VV MANE Preferred
ENST00000282516.12:c.7150C>T ENSP00000282516.8:p.Gln2384Ter
ENST00000448238.2:c.7150C>T ENSP00000406266.2:p.Gln2384Ter
ENST00000514335.1:n.1032C>T
ENST00000621733.1:c.1-12125C>T ENSP00000480694.1:p.=