Canonical Allele Identifier: CA1539618498
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37045489C= , CM000667.2:g.37045489C= GRCh38
NC_000005.9:g.37045591C= , CM000667.1:g.37045591C= GRCh37
NC_000005.8:g.37081348C= NCBI36
NG_006987.1:g.173607C=
NG_006987.2:g.173607C=

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.6390C= MANE Select ENSP00000282516.8:p.Asn2130=
ENST00000652901.1:c.6390C= ENSP00000499536.1:p.Asn2130=
ENST00000282516.12:c.6390C= ENSP00000282516.8:p.Asn2130=
ENST00000448238.2:c.6390C= ENSP00000406266.2:p.Asn2130=
ENST00000621733.1:c.1-19089C= ENSP00000480694.1:n.1-19089C=
NM_015384.4:c.6390C= NP_056199.2:p.Asn2130=
NM_133433.3:c.6390C= NP_597677.2:p.Asn2130=
XM_005248280.2:c.6390C= XP_005248337.1:p.Asn2130=
XM_005248282.3:c.5646C= XP_005248339.2:p.Asn1882=
XM_006714467.2:c.6390C= XP_006714530.1:p.Asn2130=
XM_006714468.1:c.6192C= XP_006714531.1:p.Asn2064=
XM_011514014.1:c.6009C= XP_011512316.1:p.Asn2003=
XM_011514015.1:c.6390C= XP_011512317.1:p.Asn2130=
XM_005248280.3:c.6390C= XP_005248337.1:p.Asn2130=
XM_005248282.5:c.5730C= XP_005248339.3:p.Asn1910=
XM_006714468.2:c.6192C= XP_006714531.1:p.Asn2064=
XM_017009329.1:c.6390C= XP_016864818.1:p.Asn2130=
XM_017009330.2:c.4773C= XP_016864819.1:p.Asn1591=
XM_017009331.1:c.4764C= XP_016864820.1:p.Asn1588=
NM_133433.4:c.6390C= MANE Select NP_597677.2:p.Asn2130=
NM_015384.5:c.6390C= NP_056199.2:p.Asn2130=