Canonical Allele Identifier: CA1539588676

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37063846T= , CM000667.2:g.37063846T=	GRCh38
NC_000005.9:g.37063948T= , CM000667.1:g.37063948T=	GRCh37
NC_000005.8:g.37099705T=	NCBI36
NG_006987.1:g.191964T=
NG_006987.2:g.191964T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7917T= MANE Select	ENSP00000282516.8:p.Val2639=
ENST00000652901.1:c.7770T=	ENSP00000499536.1:p.Val2590=
ENST00000282516.12:c.7917T=	ENSP00000282516.8:p.Val2639=
ENST00000448238.2:c.7917T=	ENSP00000406266.2:p.Val2639=
ENST00000513819.1:c.320T=	ENSP00000421504.1:p.Phe107=
ENST00000514335.1:n.1799T=
ENST00000621733.1:c.1-732T=	ENSP00000480694.1:n.1-732T=
NM_015384.4:c.7917T=	NP_056199.2:p.Val2639=
NM_133433.3:c.7917T=	NP_597677.2:p.Val2639=
XM_005248280.2:c.7917T=	XP_005248337.1:p.Val2639=
XM_005248282.3:c.7173T=	XP_005248339.2:p.Val2391=
XM_006714467.2:c.7770T=	XP_006714530.1:p.Val2590=
XM_006714468.1:c.7719T=	XP_006714531.1:p.Val2573=
XM_011514014.1:c.7536T=	XP_011512316.1:p.Val2512=
XM_005248280.3:c.7917T=	XP_005248337.1:p.Val2639=
XM_005248282.5:c.7257T=	XP_005248339.3:p.Val2419=
XM_006714468.2:c.7719T=	XP_006714531.1:p.Val2573=
XM_017009329.1:c.7770T=	XP_016864818.1:p.Val2590=
XM_017009330.2:c.6300T=	XP_016864819.1:p.Val2100=
XM_017009331.1:c.6291T=	XP_016864820.1:p.Val2097=
NM_133433.4:c.7917T= MANE Select	NP_597677.2:p.Val2639=
NM_015384.5:c.7917T=	NP_056199.2:p.Val2639=