Canonical Allele Identifier: CA359522803

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064842G>T (hg19) ; chr5:g.37064740G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064740G>T , CM000667.2:g.37064740G>T	GRCh38
NC_000005.9:g.37064842G>T , CM000667.1:g.37064842G>T	GRCh37
NC_000005.8:g.37100599G>T	NCBI36
NG_006987.1:g.192858G>T
NG_006987.2:g.192858G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8263G>T (NIPBL) MANE Select	ENSP00000282516.8:p.Asp2755Tyr
ENST00000652901.1:c.*207G>T (NIPBL)	ENSP00000499536.1:n.*207G>T
ENST00000282516.12:c.8263G>T (NIPBL)	ENSP00000282516.8:p.Asp2755Tyr
ENST00000514335.1:n.2186G>T (NIPBL)
ENST00000621733.1:c.163G>T (NIPBL)	ENSP00000480694.1:p.Asp55Tyr
NM_015384.4:c.*717G>T (NIPBL)	NP_056199.2:n.*717G>T
NM_133433.3:c.8263G>T (NIPBL)	NP_597677.2:p.Asp2755Tyr
XM_005248280.2:c.*207G>T (NIPBL)	XP_005248337.1:n.*207G>T
XM_005248282.3:c.7519G>T (NIPBL)	XP_005248339.2:p.Asp2507Tyr
XM_006714467.2:c.8116G>T (NIPBL)	XP_006714530.1:p.Asp2706Tyr
XM_006714468.1:c.8065G>T (NIPBL)	XP_006714531.1:p.Asp2689Tyr
XM_011514014.1:c.7882G>T (NIPBL)	XP_011512316.1:p.Asp2628Tyr
XM_005248280.3:c.*207G>T (NIPBL)	XP_005248337.1:n.*207G>T
XM_005248282.5:c.7603G>T (NIPBL)	XP_005248339.3:p.Asp2535Tyr
XM_006714468.2:c.8065G>T (NIPBL)	XP_006714531.1:p.Asp2689Tyr
XM_017009329.1:c.*207G>T (NIPBL)	XP_016864818.1:n.*207G>T
XM_017009330.2:c.6646G>T (NIPBL)	XP_016864819.1:p.Asp2216Tyr
XM_017009331.1:c.6637G>T (NIPBL)	XP_016864820.1:p.Asp2213Tyr
XR_925644.2:n.11942C>A (CPLANE1)
NM_133433.4:c.8263G>T (NIPBL) MANE Select	NP_597677.2:p.Asp2755Tyr
NM_015384.5:c.*717G>T (NIPBL)	NP_056199.2:n.*717G>T