Canonical Allele Identifier: CA1539601055
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37000518T= , CM000667.2:g.37000518T= GRCh38
NC_000005.9:g.37000620T= , CM000667.1:g.37000620T= GRCh37
NC_000005.8:g.37036377T= NCBI36
NG_006987.1:g.128636T=
NG_006987.2:g.128636T=

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.3450T= MANE Select ENSP00000282516.8:p.Ser1150=
ENST00000652901.1:c.3450T= ENSP00000499536.1:p.Ser1150=
ENST00000282516.12:c.3450T= ENSP00000282516.8:p.Ser1150=
ENST00000448238.2:c.3450T= ENSP00000406266.2:p.Ser1150=
ENST00000621733.1:c.1-64060T= ENSP00000480694.1:n.1-64060T=
NM_015384.4:c.3450T= NP_056199.2:p.Ser1150=
NM_133433.3:c.3450T= NP_597677.2:p.Ser1150=
XM_005248280.2:c.3450T= XP_005248337.1:p.Ser1150=
XM_005248282.3:c.2706T= XP_005248339.2:p.Ser902=
XM_006714467.2:c.3450T= XP_006714530.1:p.Ser1150=
XM_006714468.1:c.3305-299T= XP_006714531.1:n.3305-299T=
XM_011514014.1:c.3122-299T= XP_011512316.1:n.3122-299T=
XM_011514015.1:c.3450T= XP_011512317.1:p.Ser1150=
XM_005248280.3:c.3450T= XP_005248337.1:p.Ser1150=
XM_005248282.5:c.2790T= XP_005248339.3:p.Ser930=
XM_006714468.2:c.3305-299T= XP_006714531.1:n.3305-299T=
XM_017009329.1:c.3450T= XP_016864818.1:p.Ser1150=
XM_017009330.2:c.1833T= XP_016864819.1:p.Ser611=
XM_017009331.1:c.1824T= XP_016864820.1:p.Ser608=
NM_133433.4:c.3450T= MANE Select NP_597677.2:p.Ser1150=
NM_015384.5:c.3450T= NP_056199.2:p.Ser1150=