Canonical Allele Identifier: CA1539601610
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37001047T= , CM000667.2:g.37001047T= GRCh38
NC_000005.9:g.37001149T= , CM000667.1:g.37001149T= GRCh37
NC_000005.8:g.37036906T= NCBI36
NG_006987.1:g.129165T=
NG_006987.2:g.129165T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.3633T= MANE Select ENSP00000282516.8:p.Asp1211=
ENST00000652901.1:c.3633T= ENSP00000499536.1:p.Asp1211=
ENST00000282516.12:c.3633T= ENSP00000282516.8:p.Asp1211=
ENST00000448238.2:c.3633T= ENSP00000406266.2:p.Asp1211=
ENST00000621733.1:c.1-63531T= ENSP00000480694.1:n.1-63531T=
NM_015384.4:c.3633T= NP_056199.2:p.Asp1211=
NM_133433.3:c.3633T= NP_597677.2:p.Asp1211=
XM_005248280.2:c.3633T= XP_005248337.1:p.Asp1211=
XM_005248282.3:c.2889T= XP_005248339.2:p.Asp963=
XM_006714467.2:c.3633T= XP_006714530.1:p.Asp1211=
XM_006714468.1:c.3435T= XP_006714531.1:p.Asp1145=
XM_011514014.1:c.3252T= XP_011512316.1:p.Asp1084=
XM_011514015.1:c.3633T= XP_011512317.1:p.Asp1211=
XM_005248280.3:c.3633T= XP_005248337.1:p.Asp1211=
XM_005248282.5:c.2973T= XP_005248339.3:p.Asp991=
XM_006714468.2:c.3435T= XP_006714531.1:p.Asp1145=
XM_017009329.1:c.3633T= XP_016864818.1:p.Asp1211=
XM_017009330.2:c.2016T= XP_016864819.1:p.Asp672=
XM_017009331.1:c.2007T= XP_016864820.1:p.Asp669=
NM_133433.4:c.3633T= MANE Select NP_597677.2:p.Asp1211=
NM_015384.5:c.3633T= NP_056199.2:p.Asp1211=