Canonical Allele Identifier: CA359513341
Gene: NIPBL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36995636T>A , CM000667.2:g.36995636T>A GRCh38
NC_000005.9:g.36995738T>A , CM000667.1:g.36995738T>A GRCh37
NC_000005.8:g.37031495T>A NCBI36
NG_006987.1:g.123754T>A
NG_006987.2:g.123754T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.3136T>A MANE Select ENSP00000282516.8:p.Ser1046Thr
ENST00000652901.1:c.3136T>A ENSP00000499536.1:p.Ser1046Thr
ENST00000282516.12:c.3136T>A ENSP00000282516.8:p.Ser1046Thr
ENST00000448238.2:c.3136T>A ENSP00000406266.2:p.Ser1046Thr
ENST00000503274.1:n.487T>A
ENST00000504430.5:n.2756T>A
ENST00000621733.1:c.1-68942T>A ENSP00000480694.1:n.1-68942T>A
NM_015384.4:c.3136T>A NP_056199.2:p.Ser1046Thr
NM_133433.3:c.3136T>A NP_597677.2:p.Ser1046Thr
XM_005248280.2:c.3136T>A XP_005248337.1:p.Ser1046Thr
XM_005248282.3:c.2392T>A XP_005248339.2:p.Ser798Thr
XM_006714467.2:c.3136T>A XP_006714530.1:p.Ser1046Thr
XM_006714468.1:c.3136T>A XP_006714531.1:p.Ser1046Thr
XM_011514014.1:c.3122-5181T>A XP_011512316.1:n.3122-5181T>A
XM_011514015.1:c.3136T>A XP_011512317.1:p.Ser1046Thr
XM_005248280.3:c.3136T>A XP_005248337.1:p.Ser1046Thr
XM_005248282.5:c.2476T>A XP_005248339.3:p.Ser826Thr
XM_006714468.2:c.3136T>A XP_006714531.1:p.Ser1046Thr
XM_017009329.1:c.3136T>A XP_016864818.1:p.Ser1046Thr
XM_017009330.2:c.1519T>A XP_016864819.1:p.Ser507Thr
XM_017009331.1:c.1510T>A XP_016864820.1:p.Ser504Thr
NM_133433.4:c.3136T>A MANE Select NP_597677.2:p.Ser1046Thr
NM_015384.5:c.3136T>A NP_056199.2:p.Ser1046Thr