Canonical Allele Identifier: CA444096685

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064964G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064862G>T , CM000667.2:g.37064862G>T	GRCh38
NC_000005.9:g.37064964G>T , CM000667.1:g.37064964G>T	GRCh37
NC_000005.8:g.37100721G>T	NCBI36
NG_006987.1:g.192980G>T
NG_006987.2:g.192980G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.8385G>T (NIPBL) MANE Select	ENSP00000282516.8:p.Leu2795=
ENST00000652901.1:c.*329G>T (NIPBL)	ENSP00000499536.1:n.*329G>T
ENST00000282516.12:c.8385G>T (NIPBL)	ENSP00000282516.8:p.Leu2795=
ENST00000514335.1:n.2308G>T (NIPBL)
ENST00000621733.1:c.285G>T (NIPBL)	ENSP00000480694.1:p.Leu95=
NM_015384.4:c.*839G>T (NIPBL)	NP_056199.2:n.*839G>T
NM_133433.3:c.8385G>T (NIPBL)	NP_597677.2:p.Leu2795=
XM_005248280.2:c.*329G>T (NIPBL)	XP_005248337.1:n.*329G>T
XM_005248282.3:c.7641G>T (NIPBL)	XP_005248339.2:p.Leu2547=
XM_006714467.2:c.8238G>T (NIPBL)	XP_006714530.1:p.Leu2746=
XM_006714468.1:c.8187G>T (NIPBL)	XP_006714531.1:p.Leu2729=
XM_011514014.1:c.8004G>T (NIPBL)	XP_011512316.1:p.Leu2668=
XM_005248280.3:c.*329G>T (NIPBL)	XP_005248337.1:n.*329G>T
XM_005248282.5:c.7725G>T (NIPBL)	XP_005248339.3:p.Leu2575=
XM_006714468.2:c.8187G>T (NIPBL)	XP_006714531.1:p.Leu2729=
XM_017009329.1:c.*329G>T (NIPBL)	XP_016864818.1:n.*329G>T
XM_017009330.2:c.6768G>T (NIPBL)	XP_016864819.1:p.Leu2256=
XM_017009331.1:c.6759G>T (NIPBL)	XP_016864820.1:p.Leu2253=
XR_925644.2:n.11820C>A (CPLANE1)
NM_133433.4:c.8385G>T (NIPBL) MANE Select	NP_597677.2:p.Leu2795=
NM_015384.5:c.*839G>T (NIPBL)	NP_056199.2:n.*839G>T