Canonical Allele Identifier: CA3123355190

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060964T= , CM000667.2:g.37060964T=	GRCh38
NC_000005.9:g.37061066T= , CM000667.1:g.37061066T=	GRCh37
NC_000005.8:g.37096823T=	NCBI36
NG_006987.1:g.189082T=
NG_006987.2:g.189082T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7806T= MANE Select	ENSP00000282516.8:p.Ala2602=
ENST00000652901.1:c.7659T=	ENSP00000499536.1:p.Ala2553=
ENST00000282516.12:c.7806T=	ENSP00000282516.8:p.Ala2602=
ENST00000448238.2:c.7806T=	ENSP00000406266.2:p.Ala2602=
ENST00000513819.1:c.263+1799T=	ENSP00000421504.1:n.263+1799T=
ENST00000514335.1:n.1688T=
ENST00000621733.1:c.1-3614T=	ENSP00000480694.1:n.1-3614T=
NM_015384.4:c.7806T=	NP_056199.2:p.Ala2602=
NM_133433.3:c.7806T=	NP_597677.2:p.Ala2602=
XM_005248280.2:c.7806T=	XP_005248337.1:p.Ala2602=
XM_005248282.3:c.7062T=	XP_005248339.2:p.Ala2354=
XM_006714467.2:c.7659T=	XP_006714530.1:p.Ala2553=
XM_006714468.1:c.7608T=	XP_006714531.1:p.Ala2536=
XM_011514014.1:c.7425T=	XP_011512316.1:p.Ala2475=
XM_005248280.3:c.7806T=	XP_005248337.1:p.Ala2602=
XM_005248282.5:c.7146T=	XP_005248339.3:p.Ala2382=
XM_006714468.2:c.7608T=	XP_006714531.1:p.Ala2536=
XM_017009329.1:c.7659T=	XP_016864818.1:p.Ala2553=
XM_017009330.2:c.6189T=	XP_016864819.1:p.Ala2063=
XM_017009331.1:c.6180T=	XP_016864820.1:p.Ala2060=
NM_133433.4:c.7806T= MANE Select	NP_597677.2:p.Ala2602=
NM_015384.5:c.7806T=	NP_056199.2:p.Ala2602=