Canonical Allele Identifier: CA1539572306

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052476G= , CM000667.2:g.37052476G=	GRCh38
NC_000005.9:g.37052578G= , CM000667.1:g.37052578G=	GRCh37
NC_000005.8:g.37088335G=	NCBI36
NG_006987.1:g.180594G=
NG_006987.2:g.180594G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7173G= MANE Select	ENSP00000282516.8:p.Leu2391=
ENST00000652901.1:c.7173G=	ENSP00000499536.1:p.Leu2391=
ENST00000282516.12:c.7173G=	ENSP00000282516.8:p.Leu2391=
ENST00000448238.2:c.7173G=	ENSP00000406266.2:p.Leu2391=
ENST00000514335.1:n.1055G=
ENST00000621733.1:c.1-12102G=	ENSP00000480694.1:n.1-12102G=
NM_015384.4:c.7173G=	NP_056199.2:p.Leu2391=
NM_133433.3:c.7173G=	NP_597677.2:p.Leu2391=
XM_005248280.2:c.7173G=	XP_005248337.1:p.Leu2391=
XM_005248282.3:c.6429G=	XP_005248339.2:p.Leu2143=
XM_006714467.2:c.7173G=	XP_006714530.1:p.Leu2391=
XM_006714468.1:c.6975G=	XP_006714531.1:p.Leu2325=
XM_011514014.1:c.6792G=	XP_011512316.1:p.Leu2264=
XM_011514015.1:c.7173G=	XP_011512317.1:p.Leu2391=
XM_005248280.3:c.7173G=	XP_005248337.1:p.Leu2391=
XM_005248282.5:c.6513G=	XP_005248339.3:p.Leu2171=
XM_006714468.2:c.6975G=	XP_006714531.1:p.Leu2325=
XM_017009329.1:c.7173G=	XP_016864818.1:p.Leu2391=
XM_017009330.2:c.5556G=	XP_016864819.1:p.Leu1852=
XM_017009331.1:c.5547G=	XP_016864820.1:p.Leu1849=
NM_133433.4:c.7173G= MANE Select	NP_597677.2:p.Leu2391=
NM_015384.5:c.7173G=	NP_056199.2:p.Leu2391=