Canonical Allele Identifier: CA1539590123

Gene: NIPBL CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064537G= , CM000667.2:g.37064537G=	GRCh38
NC_000005.9:g.37064639G= , CM000667.1:g.37064639G=	GRCh37
NC_000005.8:g.37100396G=	NCBI36
NG_006987.1:g.192655G=
NG_006987.2:g.192655G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8060G= (NIPBL) MANE Select	ENSP00000282516.8:p.Arg2687=
ENST00000652901.1:c.*4G= (NIPBL)	ENSP00000499536.1:n.*4G=
ENST00000282516.12:c.8060G= (NIPBL)	ENSP00000282516.8:p.Arg2687=
ENST00000514335.1:n.1983G= (NIPBL)
ENST00000621733.1:c.1-41G= (NIPBL)	ENSP00000480694.1:n.1-41G=
NM_015384.4:c.*514G= (NIPBL)	NP_056199.2:n.*514G=
NM_133433.3:c.8060G= (NIPBL)	NP_597677.2:p.Arg2687=
XM_005248280.2:c.*4G= (NIPBL)	XP_005248337.1:n.*4G=
XM_005248282.3:c.7316G= (NIPBL)	XP_005248339.2:p.Arg2439=
XM_006714467.2:c.7913G= (NIPBL)	XP_006714530.1:p.Arg2638=
XM_006714468.1:c.7862G= (NIPBL)	XP_006714531.1:p.Arg2621=
XM_011514014.1:c.7679G= (NIPBL)	XP_011512316.1:p.Arg2560=
XM_005248280.3:c.*4G= (NIPBL)	XP_005248337.1:n.*4G=
XM_005248282.5:c.7400G= (NIPBL)	XP_005248339.3:p.Arg2467=
XM_006714468.2:c.7862G= (NIPBL)	XP_006714531.1:p.Arg2621=
XM_017009329.1:c.*4G= (NIPBL)	XP_016864818.1:n.*4G=
XM_017009330.2:c.6443G= (NIPBL)	XP_016864819.1:p.Arg2148=
XM_017009331.1:c.6434G= (NIPBL)	XP_016864820.1:p.Arg2145=
XR_925644.2:n.12145C= (CPLANE1)
NM_133433.4:c.8060G= (NIPBL) MANE Select	NP_597677.2:p.Arg2687=
NM_015384.5:c.*514G= (NIPBL)	NP_056199.2:n.*514G=