Canonical Allele Identifier: CA1539579931
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36984548T= , CM000667.2:g.36984548T= GRCh38
NC_000005.9:g.36984650T= , CM000667.1:g.36984650T= GRCh37
NC_000005.8:g.37020407T= NCBI36
NG_006987.1:g.112666T=
NG_006987.2:g.112666T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.1496-128T= MANE Select ENSP00000282516.8:n.1496-128T=
ENST00000652901.1:c.1496-128T= ENSP00000499536.1:n.1496-128T=
ENST00000282516.12:c.1496-128T= ENSP00000282516.8:n.1496-128T=
ENST00000448238.2:c.1496-128T= ENSP00000406266.2:n.1496-128T=
ENST00000504430.5:n.1116-128T=
ENST00000621733.1:c.1-80030T= ENSP00000480694.1:n.1-80030T=
NM_015384.4:c.1496-128T= NP_056199.2:n.1496-128T=
NM_133433.3:c.1496-128T= NP_597677.2:n.1496-128T=
XM_005248280.2:c.1496-128T= XP_005248337.1:n.1496-128T=
XM_005248282.3:c.752-128T= XP_005248339.2:n.752-128T=
XM_006714467.2:c.1496-128T= XP_006714530.1:n.1496-128T=
XM_006714468.1:c.1496-128T= XP_006714531.1:n.1496-128T=
XM_011514014.1:c.1496-128T= XP_011512316.1:n.1496-128T=
XM_011514015.1:c.1496-128T= XP_011512317.1:n.1496-128T=
XM_005248280.3:c.1496-128T= XP_005248337.1:n.1496-128T=
XM_005248282.5:c.836-128T= XP_005248339.3:n.836-128T=
XM_006714468.2:c.1496-128T= XP_006714531.1:n.1496-128T=
XM_017009329.1:c.1496-128T= XP_016864818.1:n.1496-128T=
XM_017009330.2:c.-122-128T= XP_016864819.1:n.-122-128T=
XM_017009331.1:c.1495+8146T= XP_016864820.1:n.1495+8146T=
NM_133433.4:c.1496-128T= MANE Select NP_597677.2:n.1496-128T=
NM_015384.5:c.1496-128T= NP_056199.2:n.1496-128T=