Canonical Allele Identifier: CA1539583017

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060877A= , CM000667.2:g.37060877A=	GRCh38
NC_000005.9:g.37060979A= , CM000667.1:g.37060979A=	GRCh37
NC_000005.8:g.37096736A=	NCBI36
NG_006987.1:g.188995A=
NG_006987.2:g.188995A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7719A= MANE Select	ENSP00000282516.8:p.Ala2573=
ENST00000652901.1:c.7572A=	ENSP00000499536.1:p.Ala2524=
ENST00000282516.12:c.7719A=	ENSP00000282516.8:p.Ala2573=
ENST00000448238.2:c.7719A=	ENSP00000406266.2:p.Ala2573=
ENST00000513819.1:c.263+1712A=	ENSP00000421504.1:n.263+1712A=
ENST00000514335.1:n.1601A=
ENST00000621733.1:c.1-3701A=	ENSP00000480694.1:n.1-3701A=
NM_015384.4:c.7719A=	NP_056199.2:p.Ala2573=
NM_133433.3:c.7719A=	NP_597677.2:p.Ala2573=
XM_005248280.2:c.7719A=	XP_005248337.1:p.Ala2573=
XM_005248282.3:c.6975A=	XP_005248339.2:p.Ala2325=
XM_006714467.2:c.7572A=	XP_006714530.1:p.Ala2524=
XM_006714468.1:c.7521A=	XP_006714531.1:p.Ala2507=
XM_011514014.1:c.7338A=	XP_011512316.1:p.Ala2446=
XM_011514015.1:c.*31A=	XP_011512317.1:n.*31A=
XM_005248280.3:c.7719A=	XP_005248337.1:p.Ala2573=
XM_005248282.5:c.7059A=	XP_005248339.3:p.Ala2353=
XM_006714468.2:c.7521A=	XP_006714531.1:p.Ala2507=
XM_017009329.1:c.7572A=	XP_016864818.1:p.Ala2524=
XM_017009330.2:c.6102A=	XP_016864819.1:p.Ala2034=
XM_017009331.1:c.6093A=	XP_016864820.1:p.Ala2031=
NM_133433.4:c.7719A= MANE Select	NP_597677.2:p.Ala2573=
NM_015384.5:c.7719A=	NP_056199.2:p.Ala2573=