Canonical Allele Identifier: CA1539572417

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052548C= , CM000667.2:g.37052548C=	GRCh38
NC_000005.9:g.37052650C= , CM000667.1:g.37052650C=	GRCh37
NC_000005.8:g.37088407C=	NCBI36
NG_006987.1:g.180666C=
NG_006987.2:g.180666C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7245C= MANE Select	ENSP00000282516.8:p.Asn2415=
ENST00000652901.1:c.7245C=	ENSP00000499536.1:p.Asn2415=
ENST00000282516.12:c.7245C=	ENSP00000282516.8:p.Asn2415=
ENST00000448238.2:c.7245C=	ENSP00000406266.2:p.Asn2415=
ENST00000514335.1:n.1127C=
ENST00000621733.1:c.1-12030C=	ENSP00000480694.1:n.1-12030C=
NM_015384.4:c.7245C=	NP_056199.2:p.Asn2415=
NM_133433.3:c.7245C=	NP_597677.2:p.Asn2415=
XM_005248280.2:c.7245C=	XP_005248337.1:p.Asn2415=
XM_005248282.3:c.6501C=	XP_005248339.2:p.Asn2167=
XM_006714467.2:c.7245C=	XP_006714530.1:p.Asn2415=
XM_006714468.1:c.7047C=	XP_006714531.1:p.Asn2349=
XM_011514014.1:c.6864C=	XP_011512316.1:p.Asn2288=
XM_011514015.1:c.7245C=	XP_011512317.1:p.Asn2415=
XM_005248280.3:c.7245C=	XP_005248337.1:p.Asn2415=
XM_005248282.5:c.6585C=	XP_005248339.3:p.Asn2195=
XM_006714468.2:c.7047C=	XP_006714531.1:p.Asn2349=
XM_017009329.1:c.7245C=	XP_016864818.1:p.Asn2415=
XM_017009330.2:c.5628C=	XP_016864819.1:p.Asn1876=
XM_017009331.1:c.5619C=	XP_016864820.1:p.Asn1873=
NM_133433.4:c.7245C= MANE Select	NP_597677.2:p.Asn2415=
NM_015384.5:c.7245C=	NP_056199.2:p.Asn2415=