Canonical Allele Identifier: CA1539585042
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37020974T= , CM000667.2:g.37020974T= GRCh38
NC_000005.9:g.37021076T= , CM000667.1:g.37021076T= GRCh37
NC_000005.8:g.37056833T= NCBI36
NG_006987.1:g.149092T=
NG_006987.2:g.149092T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.5328+97T= MANE Select ENSP00000282516.8:n.5328+97T=
ENST00000652901.1:c.5328+97T= ENSP00000499536.1:n.5328+97T=
ENST00000282516.12:c.5328+97T= ENSP00000282516.8:n.5328+97T=
ENST00000448238.2:c.5328+97T= ENSP00000406266.2:n.5328+97T=
ENST00000621733.1:c.1-43604T= ENSP00000480694.1:n.1-43604T=
NM_015384.4:c.5328+97T= NP_056199.2:n.5328+97T=
NM_133433.3:c.5328+97T= NP_597677.2:n.5328+97T=
XM_005248280.2:c.5328+97T= XP_005248337.1:n.5328+97T=
XM_005248282.3:c.4584+97T= XP_005248339.2:n.4584+97T=
XM_006714467.2:c.5328+97T= XP_006714530.1:n.5328+97T=
XM_006714468.1:c.5130+97T= XP_006714531.1:n.5130+97T=
XM_011514014.1:c.4947+97T= XP_011512316.1:n.4947+97T=
XM_011514015.1:c.5328+97T= XP_011512317.1:n.5328+97T=
XM_005248280.3:c.5328+97T= XP_005248337.1:n.5328+97T=
XM_005248282.5:c.4668+97T= XP_005248339.3:n.4668+97T=
XM_006714468.2:c.5130+97T= XP_006714531.1:n.5130+97T=
XM_017009329.1:c.5328+97T= XP_016864818.1:n.5328+97T=
XM_017009330.2:c.3711+97T= XP_016864819.1:n.3711+97T=
XM_017009331.1:c.3702+97T= XP_016864820.1:n.3702+97T=
NM_133433.4:c.5328+97T= MANE Select NP_597677.2:n.5328+97T=
NM_015384.5:c.5328+97T= NP_056199.2:n.5328+97T=