Canonical Allele Identifier: CA1539590381

Gene: NIPBL CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064672G= , CM000667.2:g.37064672G=	GRCh38
NC_000005.9:g.37064774G= , CM000667.1:g.37064774G=	GRCh37
NC_000005.8:g.37100531G=	NCBI36
NG_006987.1:g.192790G=
NG_006987.2:g.192790G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8195G= (NIPBL) MANE Select	ENSP00000282516.8:p.Ser2732=
ENST00000652901.1:c.*139G= (NIPBL)	ENSP00000499536.1:n.*139G=
ENST00000282516.12:c.8195G= (NIPBL)	ENSP00000282516.8:p.Ser2732=
ENST00000514335.1:n.2118G= (NIPBL)
ENST00000621733.1:c.95G= (NIPBL)	ENSP00000480694.1:p.Ser32=
NM_015384.4:c.*649G= (NIPBL)	NP_056199.2:n.*649G=
NM_133433.3:c.8195G= (NIPBL)	NP_597677.2:p.Ser2732=
XM_005248280.2:c.*139G= (NIPBL)	XP_005248337.1:n.*139G=
XM_005248282.3:c.7451G= (NIPBL)	XP_005248339.2:p.Ser2484=
XM_006714467.2:c.8048G= (NIPBL)	XP_006714530.1:p.Ser2683=
XM_006714468.1:c.7997G= (NIPBL)	XP_006714531.1:p.Ser2666=
XM_011514014.1:c.7814G= (NIPBL)	XP_011512316.1:p.Ser2605=
XM_005248280.3:c.*139G= (NIPBL)	XP_005248337.1:n.*139G=
XM_005248282.5:c.7535G= (NIPBL)	XP_005248339.3:p.Ser2512=
XM_006714468.2:c.7997G= (NIPBL)	XP_006714531.1:p.Ser2666=
XM_017009329.1:c.*139G= (NIPBL)	XP_016864818.1:n.*139G=
XM_017009330.2:c.6578G= (NIPBL)	XP_016864819.1:p.Ser2193=
XM_017009331.1:c.6569G= (NIPBL)	XP_016864820.1:p.Ser2190=
XR_925644.2:n.12010C= (CPLANE1)
NM_133433.4:c.8195G= (NIPBL) MANE Select	NP_597677.2:p.Ser2732=
NM_015384.5:c.*649G= (NIPBL)	NP_056199.2:n.*649G=