Canonical Allele Identifier: CA1539583020

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060881G= , CM000667.2:g.37060881G=	GRCh38
NC_000005.9:g.37060983G= , CM000667.1:g.37060983G=	GRCh37
NC_000005.8:g.37096740G=	NCBI36
NG_006987.1:g.188999G=
NG_006987.2:g.188999G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7723G= MANE Select	ENSP00000282516.8:p.Val2575=
ENST00000652901.1:c.7576G=	ENSP00000499536.1:p.Val2526=
ENST00000282516.12:c.7723G=	ENSP00000282516.8:p.Val2575=
ENST00000448238.2:c.7723G=	ENSP00000406266.2:p.Val2575=
ENST00000513819.1:c.263+1716G=	ENSP00000421504.1:n.263+1716G=
ENST00000514335.1:n.1605G=
ENST00000621733.1:c.1-3697G=	ENSP00000480694.1:n.1-3697G=
NM_015384.4:c.7723G=	NP_056199.2:p.Val2575=
NM_133433.3:c.7723G=	NP_597677.2:p.Val2575=
XM_005248280.2:c.7723G=	XP_005248337.1:p.Val2575=
XM_005248282.3:c.6979G=	XP_005248339.2:p.Val2327=
XM_006714467.2:c.7576G=	XP_006714530.1:p.Val2526=
XM_006714468.1:c.7525G=	XP_006714531.1:p.Val2509=
XM_011514014.1:c.7342G=	XP_011512316.1:p.Val2448=
XM_011514015.1:c.*35G=	XP_011512317.1:n.*35G=
XM_005248280.3:c.7723G=	XP_005248337.1:p.Val2575=
XM_005248282.5:c.7063G=	XP_005248339.3:p.Val2355=
XM_006714468.2:c.7525G=	XP_006714531.1:p.Val2509=
XM_017009329.1:c.7576G=	XP_016864818.1:p.Val2526=
XM_017009330.2:c.6106G=	XP_016864819.1:p.Val2036=
XM_017009331.1:c.6097G=	XP_016864820.1:p.Val2033=
NM_133433.4:c.7723G= MANE Select	NP_597677.2:p.Val2575=
NM_015384.5:c.7723G=	NP_056199.2:p.Val2575=