Canonical Allele Identifier: CA1539619265

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020601A= , CM000667.2:g.37020601A=	GRCh38
NC_000005.9:g.37020703A= , CM000667.1:g.37020703A=	GRCh37
NC_000005.8:g.37056460A=	NCBI36
NG_006987.1:g.148719A=
NG_006987.2:g.148719A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5153A= MANE Select	ENSP00000282516.8:p.His1718=
ENST00000652901.1:c.5153A=	ENSP00000499536.1:p.His1718=
ENST00000282516.12:c.5153A=	ENSP00000282516.8:p.His1718=
ENST00000448238.2:c.5153A=	ENSP00000406266.2:p.His1718=
ENST00000621733.1:c.1-43977A=	ENSP00000480694.1:n.1-43977A=
NM_015384.4:c.5153A=	NP_056199.2:p.His1718=
NM_133433.3:c.5153A=	NP_597677.2:p.His1718=
XM_005248280.2:c.5153A=	XP_005248337.1:p.His1718=
XM_005248282.3:c.4409A=	XP_005248339.2:p.His1470=
XM_006714467.2:c.5153A=	XP_006714530.1:p.His1718=
XM_006714468.1:c.4955A=	XP_006714531.1:p.His1652=
XM_011514014.1:c.4772A=	XP_011512316.1:p.His1591=
XM_011514015.1:c.5153A=	XP_011512317.1:p.His1718=
XM_005248280.3:c.5153A=	XP_005248337.1:p.His1718=
XM_005248282.5:c.4493A=	XP_005248339.3:p.His1498=
XM_006714468.2:c.4955A=	XP_006714531.1:p.His1652=
XM_017009329.1:c.5153A=	XP_016864818.1:p.His1718=
XM_017009330.2:c.3536A=	XP_016864819.1:p.His1179=
XM_017009331.1:c.3527A=	XP_016864820.1:p.His1176=
NM_133433.4:c.5153A= MANE Select	NP_597677.2:p.His1718=
NM_015384.5:c.5153A=	NP_056199.2:p.His1718=