Canonical Allele Identifier: CA444096516

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064790T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064688T>A , CM000667.2:g.37064688T>A	GRCh38
NC_000005.9:g.37064790T>A , CM000667.1:g.37064790T>A	GRCh37
NC_000005.8:g.37100547T>A	NCBI36
NG_006987.1:g.192806T>A
NG_006987.2:g.192806T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8211T>A (NIPBL) MANE Select	ENSP00000282516.8:p.Val2737=
ENST00000652901.1:c.*155T>A (NIPBL)	ENSP00000499536.1:n.*155T>A
ENST00000282516.12:c.8211T>A (NIPBL)	ENSP00000282516.8:p.Val2737=
ENST00000514335.1:n.2134T>A (NIPBL)
ENST00000621733.1:c.111T>A (NIPBL)	ENSP00000480694.1:p.Val37=
NM_015384.4:c.*665T>A (NIPBL)	NP_056199.2:n.*665T>A
NM_133433.3:c.8211T>A (NIPBL)	NP_597677.2:p.Val2737=
XM_005248280.2:c.*155T>A (NIPBL)	XP_005248337.1:n.*155T>A
XM_005248282.3:c.7467T>A (NIPBL)	XP_005248339.2:p.Val2489=
XM_006714467.2:c.8064T>A (NIPBL)	XP_006714530.1:p.Val2688=
XM_006714468.1:c.8013T>A (NIPBL)	XP_006714531.1:p.Val2671=
XM_011514014.1:c.7830T>A (NIPBL)	XP_011512316.1:p.Val2610=
XM_005248280.3:c.*155T>A (NIPBL)	XP_005248337.1:n.*155T>A
XM_005248282.5:c.7551T>A (NIPBL)	XP_005248339.3:p.Val2517=
XM_006714468.2:c.8013T>A (NIPBL)	XP_006714531.1:p.Val2671=
XM_017009329.1:c.*155T>A (NIPBL)	XP_016864818.1:n.*155T>A
XM_017009330.2:c.6594T>A (NIPBL)	XP_016864819.1:p.Val2198=
XM_017009331.1:c.6585T>A (NIPBL)	XP_016864820.1:p.Val2195=
XR_925644.2:n.11994A>T (CPLANE1)
NM_133433.4:c.8211T>A (NIPBL) MANE Select	NP_597677.2:p.Val2737=
NM_015384.5:c.*665T>A (NIPBL)	NP_056199.2:n.*665T>A