Canonical Allele Identifier: CA1539601130

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37000543T= , CM000667.2:g.37000543T=	GRCh38
NC_000005.9:g.37000645T= , CM000667.1:g.37000645T=	GRCh37
NC_000005.8:g.37036402T=	NCBI36
NG_006987.1:g.128661T=
NG_006987.2:g.128661T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3475T= MANE Select	ENSP00000282516.8:p.Tyr1159=
ENST00000652901.1:c.3475T=	ENSP00000499536.1:p.Tyr1159=
ENST00000282516.12:c.3475T=	ENSP00000282516.8:p.Tyr1159=
ENST00000448238.2:c.3475T=	ENSP00000406266.2:p.Tyr1159=
ENST00000621733.1:c.1-64035T=	ENSP00000480694.1:n.1-64035T=
NM_015384.4:c.3475T=	NP_056199.2:p.Tyr1159=
NM_133433.3:c.3475T=	NP_597677.2:p.Tyr1159=
XM_005248280.2:c.3475T=	XP_005248337.1:p.Tyr1159=
XM_005248282.3:c.2731T=	XP_005248339.2:p.Tyr911=
XM_006714467.2:c.3475T=	XP_006714530.1:p.Tyr1159=
XM_006714468.1:c.3305-274T=	XP_006714531.1:n.3305-274T=
XM_011514014.1:c.3122-274T=	XP_011512316.1:n.3122-274T=
XM_011514015.1:c.3475T=	XP_011512317.1:p.Tyr1159=
XM_005248280.3:c.3475T=	XP_005248337.1:p.Tyr1159=
XM_005248282.5:c.2815T=	XP_005248339.3:p.Tyr939=
XM_006714468.2:c.3305-274T=	XP_006714531.1:n.3305-274T=
XM_017009329.1:c.3475T=	XP_016864818.1:p.Tyr1159=
XM_017009330.2:c.1858T=	XP_016864819.1:p.Tyr620=
XM_017009331.1:c.1849T=	XP_016864820.1:p.Tyr617=
NM_133433.4:c.3475T= MANE Select	NP_597677.2:p.Tyr1159=
NM_015384.5:c.3475T=	NP_056199.2:p.Tyr1159=