Canonical Allele Identifier: CA1539571346

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051808A= , CM000667.2:g.37051808A=	GRCh38
NC_000005.9:g.37051910A= , CM000667.1:g.37051910A=	GRCh37
NC_000005.8:g.37087667A=	NCBI36
NG_006987.1:g.179926A=
NG_006987.2:g.179926A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6984A= MANE Select	ENSP00000282516.8:p.Thr2328=
ENST00000652901.1:c.6984A=	ENSP00000499536.1:p.Thr2328=
ENST00000282516.12:c.6984A=	ENSP00000282516.8:p.Thr2328=
ENST00000448238.2:c.6984A=	ENSP00000406266.2:p.Thr2328=
ENST00000514335.1:n.866A=
ENST00000621733.1:c.1-12770A=	ENSP00000480694.1:n.1-12770A=
NM_015384.4:c.6984A=	NP_056199.2:p.Thr2328=
NM_133433.3:c.6984A=	NP_597677.2:p.Thr2328=
XM_005248280.2:c.6984A=	XP_005248337.1:p.Thr2328=
XM_005248282.3:c.6240A=	XP_005248339.2:p.Thr2080=
XM_006714467.2:c.6984A=	XP_006714530.1:p.Thr2328=
XM_006714468.1:c.6786A=	XP_006714531.1:p.Thr2262=
XM_011514014.1:c.6603A=	XP_011512316.1:p.Thr2201=
XM_011514015.1:c.6984A=	XP_011512317.1:p.Thr2328=
XM_005248280.3:c.6984A=	XP_005248337.1:p.Thr2328=
XM_005248282.5:c.6324A=	XP_005248339.3:p.Thr2108=
XM_006714468.2:c.6786A=	XP_006714531.1:p.Thr2262=
XM_017009329.1:c.6984A=	XP_016864818.1:p.Thr2328=
XM_017009330.2:c.5367A=	XP_016864819.1:p.Thr1789=
XM_017009331.1:c.5358A=	XP_016864820.1:p.Thr1786=
NM_133433.4:c.6984A= MANE Select	NP_597677.2:p.Thr2328=
NM_015384.5:c.6984A=	NP_056199.2:p.Thr2328=