Canonical Allele Identifier: CA443916499

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064724T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064622T>C , CM000667.2:g.37064622T>C	GRCh38
NC_000005.9:g.37064724T>C , CM000667.1:g.37064724T>C	GRCh37
NC_000005.8:g.37100481T>C	NCBI36
NG_006987.1:g.192740T>C
NG_006987.2:g.192740T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8145T>C (NIPBL) MANE Select	ENSP00000282516.8:p.Cys2715=
ENST00000652901.1:c.*89T>C (NIPBL)	ENSP00000499536.1:n.*89T>C
ENST00000282516.12:c.8145T>C (NIPBL)	ENSP00000282516.8:p.Cys2715=
ENST00000514335.1:n.2068T>C (NIPBL)
ENST00000621733.1:c.45T>C (NIPBL)	ENSP00000480694.1:p.Cys15=
NM_015384.4:c.*599T>C (NIPBL)	NP_056199.2:n.*599T>C
NM_133433.3:c.8145T>C (NIPBL)	NP_597677.2:p.Cys2715=
XM_005248280.2:c.*89T>C (NIPBL)	XP_005248337.1:n.*89T>C
XM_005248282.3:c.7401T>C (NIPBL)	XP_005248339.2:p.Cys2467=
XM_006714467.2:c.7998T>C (NIPBL)	XP_006714530.1:p.Cys2666=
XM_006714468.1:c.7947T>C (NIPBL)	XP_006714531.1:p.Cys2649=
XM_011514014.1:c.7764T>C (NIPBL)	XP_011512316.1:p.Cys2588=
XM_005248280.3:c.*89T>C (NIPBL)	XP_005248337.1:n.*89T>C
XM_005248282.5:c.7485T>C (NIPBL)	XP_005248339.3:p.Cys2495=
XM_006714468.2:c.7947T>C (NIPBL)	XP_006714531.1:p.Cys2649=
XM_017009329.1:c.*89T>C (NIPBL)	XP_016864818.1:n.*89T>C
XM_017009330.2:c.6528T>C (NIPBL)	XP_016864819.1:p.Cys2176=
XM_017009331.1:c.6519T>C (NIPBL)	XP_016864820.1:p.Cys2173=
XR_925644.2:n.12060A>G (CPLANE1)
NM_133433.4:c.8145T>C (NIPBL) MANE Select	NP_597677.2:p.Cys2715=
NM_015384.5:c.*599T>C (NIPBL)	NP_056199.2:n.*599T>C