Canonical Allele Identifier: CA359521757

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064635A>T (hg19) ; chr5:g.37064533A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064533A>T , CM000667.2:g.37064533A>T	GRCh38
NC_000005.9:g.37064635A>T , CM000667.1:g.37064635A>T	GRCh37
NC_000005.8:g.37100392A>T	NCBI36
NG_006987.1:g.192651A>T
NG_006987.2:g.192651A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8056A>T (NIPBL) MANE Select	ENSP00000282516.8:p.Arg2686Ter
ENST00000652901.1:c.7950A>T (NIPBL)	ENSP00000499536.1:p.Ter2650Cys
ENST00000282516.12:c.8056A>T (NIPBL)	ENSP00000282516.8:p.Arg2686Ter
ENST00000514335.1:n.1979A>T (NIPBL)
ENST00000621733.1:c.1-45A>T (NIPBL)	ENSP00000480694.1:n.1-45A>T
NM_015384.4:c.*510A>T (NIPBL)	NP_056199.2:n.*510A>T
NM_133433.3:c.8056A>T (NIPBL)	NP_597677.2:p.Arg2686Ter
XM_005248280.2:c.8097A>T (NIPBL)	XP_005248337.1:p.Ter2699Cys
XM_005248282.3:c.7312A>T (NIPBL)	XP_005248339.2:p.Arg2438Ter
XM_006714467.2:c.7909A>T (NIPBL)	XP_006714530.1:p.Arg2637Ter
XM_006714468.1:c.7858A>T (NIPBL)	XP_006714531.1:p.Arg2620Ter
XM_011514014.1:c.7675A>T (NIPBL)	XP_011512316.1:p.Arg2559Ter
XM_005248280.3:c.8097A>T (NIPBL)	XP_005248337.1:p.Ter2699Cys
XM_005248282.5:c.7396A>T (NIPBL)	XP_005248339.3:p.Arg2466Ter
XM_006714468.2:c.7858A>T (NIPBL)	XP_006714531.1:p.Arg2620Ter
XM_017009329.1:c.7950A>T (NIPBL)	XP_016864818.1:p.Ter2650Cys
XM_017009330.2:c.6439A>T (NIPBL)	XP_016864819.1:p.Arg2147Ter
XM_017009331.1:c.6430A>T (NIPBL)	XP_016864820.1:p.Arg2144Ter
XR_925644.2:n.12149T>A (CPLANE1)
NM_133433.4:c.8056A>T (NIPBL) MANE Select	NP_597677.2:p.Arg2686Ter
NM_015384.5:c.*510A>T (NIPBL)	NP_056199.2:n.*510A>T