Canonical Allele Identifier: CA1539583023

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060883A= , CM000667.2:g.37060883A=	GRCh38
NC_000005.9:g.37060985A= , CM000667.1:g.37060985A=	GRCh37
NC_000005.8:g.37096742A=	NCBI36
NG_006987.1:g.189001A=
NG_006987.2:g.189001A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7725A= MANE Select	ENSP00000282516.8:p.Val2575=
ENST00000652901.1:c.7578A=	ENSP00000499536.1:p.Val2526=
ENST00000282516.12:c.7725A=	ENSP00000282516.8:p.Val2575=
ENST00000448238.2:c.7725A=	ENSP00000406266.2:p.Val2575=
ENST00000513819.1:c.263+1718A=	ENSP00000421504.1:n.263+1718A=
ENST00000514335.1:n.1607A=
ENST00000621733.1:c.1-3695A=	ENSP00000480694.1:n.1-3695A=
NM_015384.4:c.7725A=	NP_056199.2:p.Val2575=
NM_133433.3:c.7725A=	NP_597677.2:p.Val2575=
XM_005248280.2:c.7725A=	XP_005248337.1:p.Val2575=
XM_005248282.3:c.6981A=	XP_005248339.2:p.Val2327=
XM_006714467.2:c.7578A=	XP_006714530.1:p.Val2526=
XM_006714468.1:c.7527A=	XP_006714531.1:p.Val2509=
XM_011514014.1:c.7344A=	XP_011512316.1:p.Val2448=
XM_011514015.1:c.*37A=	XP_011512317.1:n.*37A=
XM_005248280.3:c.7725A=	XP_005248337.1:p.Val2575=
XM_005248282.5:c.7065A=	XP_005248339.3:p.Val2355=
XM_006714468.2:c.7527A=	XP_006714531.1:p.Val2509=
XM_017009329.1:c.7578A=	XP_016864818.1:p.Val2526=
XM_017009330.2:c.6108A=	XP_016864819.1:p.Val2036=
XM_017009331.1:c.6099A=	XP_016864820.1:p.Val2033=
NM_133433.4:c.7725A= MANE Select	NP_597677.2:p.Val2575=
NM_015384.5:c.7725A=	NP_056199.2:p.Val2575=