Canonical Allele Identifier: CA1539590438

Gene: NIPBL CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064710A= , CM000667.2:g.37064710A=	GRCh38
NC_000005.9:g.37064812A= , CM000667.1:g.37064812A=	GRCh37
NC_000005.8:g.37100569A=	NCBI36
NG_006987.1:g.192828A=
NG_006987.2:g.192828A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8233A= (NIPBL) MANE Select	ENSP00000282516.8:p.Ser2745=
ENST00000652901.1:c.*177A= (NIPBL)	ENSP00000499536.1:n.*177A=
ENST00000282516.12:c.8233A= (NIPBL)	ENSP00000282516.8:p.Ser2745=
ENST00000514335.1:n.2156A= (NIPBL)
ENST00000621733.1:c.133A= (NIPBL)	ENSP00000480694.1:p.Ser45=
NM_015384.4:c.*687A= (NIPBL)	NP_056199.2:n.*687A=
NM_133433.3:c.8233A= (NIPBL)	NP_597677.2:p.Ser2745=
XM_005248280.2:c.*177A= (NIPBL)	XP_005248337.1:n.*177A=
XM_005248282.3:c.7489A= (NIPBL)	XP_005248339.2:p.Ser2497=
XM_006714467.2:c.8086A= (NIPBL)	XP_006714530.1:p.Ser2696=
XM_006714468.1:c.8035A= (NIPBL)	XP_006714531.1:p.Ser2679=
XM_011514014.1:c.7852A= (NIPBL)	XP_011512316.1:p.Ser2618=
XM_005248280.3:c.*177A= (NIPBL)	XP_005248337.1:n.*177A=
XM_005248282.5:c.7573A= (NIPBL)	XP_005248339.3:p.Ser2525=
XM_006714468.2:c.8035A= (NIPBL)	XP_006714531.1:p.Ser2679=
XM_017009329.1:c.*177A= (NIPBL)	XP_016864818.1:n.*177A=
XM_017009330.2:c.6616A= (NIPBL)	XP_016864819.1:p.Ser2206=
XM_017009331.1:c.6607A= (NIPBL)	XP_016864820.1:p.Ser2203=
XR_925644.2:n.11972T= (CPLANE1)
NM_133433.4:c.8233A= (NIPBL) MANE Select	NP_597677.2:p.Ser2745=
NM_015384.5:c.*687A= (NIPBL)	NP_056199.2:n.*687A=