Canonical Allele Identifier: CA1539619223

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020527A= , CM000667.2:g.37020527A=	GRCh38
NC_000005.9:g.37020629A= , CM000667.1:g.37020629A=	GRCh37
NC_000005.8:g.37056386A=	NCBI36
NG_006987.1:g.148645A=
NG_006987.2:g.148645A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5079A= MANE Select	ENSP00000282516.8:p.Lys1693=
ENST00000652901.1:c.5079A=	ENSP00000499536.1:p.Lys1693=
ENST00000282516.12:c.5079A=	ENSP00000282516.8:p.Lys1693=
ENST00000448238.2:c.5079A=	ENSP00000406266.2:p.Lys1693=
ENST00000621733.1:c.1-44051A=	ENSP00000480694.1:n.1-44051A=
NM_015384.4:c.5079A=	NP_056199.2:p.Lys1693=
NM_133433.3:c.5079A=	NP_597677.2:p.Lys1693=
XM_005248280.2:c.5079A=	XP_005248337.1:p.Lys1693=
XM_005248282.3:c.4335A=	XP_005248339.2:p.Lys1445=
XM_006714467.2:c.5079A=	XP_006714530.1:p.Lys1693=
XM_006714468.1:c.4881A=	XP_006714531.1:p.Lys1627=
XM_011514014.1:c.4698A=	XP_011512316.1:p.Lys1566=
XM_011514015.1:c.5079A=	XP_011512317.1:p.Lys1693=
XM_005248280.3:c.5079A=	XP_005248337.1:p.Lys1693=
XM_005248282.5:c.4419A=	XP_005248339.3:p.Lys1473=
XM_006714468.2:c.4881A=	XP_006714531.1:p.Lys1627=
XM_017009329.1:c.5079A=	XP_016864818.1:p.Lys1693=
XM_017009330.2:c.3462A=	XP_016864819.1:p.Lys1154=
XM_017009331.1:c.3453A=	XP_016864820.1:p.Lys1151=
NM_133433.4:c.5079A= MANE Select	NP_597677.2:p.Lys1693=
NM_015384.5:c.5079A=	NP_056199.2:p.Lys1693=