Canonical Allele Identifier: CA1539618489
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37045485A= , CM000667.2:g.37045485A= GRCh38
NC_000005.9:g.37045587A= , CM000667.1:g.37045587A= GRCh37
NC_000005.8:g.37081344A= NCBI36
NG_006987.1:g.173603A=
NG_006987.2:g.173603A=

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.6386A= MANE Select ENSP00000282516.8:p.Asn2129=
ENST00000652901.1:c.6386A= ENSP00000499536.1:p.Asn2129=
ENST00000282516.12:c.6386A= ENSP00000282516.8:p.Asn2129=
ENST00000448238.2:c.6386A= ENSP00000406266.2:p.Asn2129=
ENST00000621733.1:c.1-19093A= ENSP00000480694.1:n.1-19093A=
NM_015384.4:c.6386A= NP_056199.2:p.Asn2129=
NM_133433.3:c.6386A= NP_597677.2:p.Asn2129=
XM_005248280.2:c.6386A= XP_005248337.1:p.Asn2129=
XM_005248282.3:c.5642A= XP_005248339.2:p.Asn1881=
XM_006714467.2:c.6386A= XP_006714530.1:p.Asn2129=
XM_006714468.1:c.6188A= XP_006714531.1:p.Asn2063=
XM_011514014.1:c.6005A= XP_011512316.1:p.Asn2002=
XM_011514015.1:c.6386A= XP_011512317.1:p.Asn2129=
XM_005248280.3:c.6386A= XP_005248337.1:p.Asn2129=
XM_005248282.5:c.5726A= XP_005248339.3:p.Asn1909=
XM_006714468.2:c.6188A= XP_006714531.1:p.Asn2063=
XM_017009329.1:c.6386A= XP_016864818.1:p.Asn2129=
XM_017009330.2:c.4769A= XP_016864819.1:p.Asn1590=
XM_017009331.1:c.4760A= XP_016864820.1:p.Asn1587=
NM_133433.4:c.6386A= MANE Select NP_597677.2:p.Asn2129=
NM_015384.5:c.6386A= NP_056199.2:p.Asn2129=