Canonical Allele Identifier: CA359521810

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064645A>T (hg19) ; chr5:g.37064543A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064543A>T , CM000667.2:g.37064543A>T	GRCh38
NC_000005.9:g.37064645A>T , CM000667.1:g.37064645A>T	GRCh37
NC_000005.8:g.37100402A>T	NCBI36
NG_006987.1:g.192661A>T
NG_006987.2:g.192661A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8066A>T (NIPBL) MANE Select	ENSP00000282516.8:p.Lys2689Ile
ENST00000652901.1:c.*10A>T (NIPBL)	ENSP00000499536.1:n.*10A>T
ENST00000282516.12:c.8066A>T (NIPBL)	ENSP00000282516.8:p.Lys2689Ile
ENST00000514335.1:n.1989A>T (NIPBL)
ENST00000621733.1:c.1-35A>T (NIPBL)	ENSP00000480694.1:n.1-35A>T
NM_015384.4:c.*520A>T (NIPBL)	NP_056199.2:n.*520A>T
NM_133433.3:c.8066A>T (NIPBL)	NP_597677.2:p.Lys2689Ile
XM_005248280.2:c.*10A>T (NIPBL)	XP_005248337.1:n.*10A>T
XM_005248282.3:c.7322A>T (NIPBL)	XP_005248339.2:p.Lys2441Ile
XM_006714467.2:c.7919A>T (NIPBL)	XP_006714530.1:p.Lys2640Ile
XM_006714468.1:c.7868A>T (NIPBL)	XP_006714531.1:p.Lys2623Ile
XM_011514014.1:c.7685A>T (NIPBL)	XP_011512316.1:p.Lys2562Ile
XM_005248280.3:c.*10A>T (NIPBL)	XP_005248337.1:n.*10A>T
XM_005248282.5:c.7406A>T (NIPBL)	XP_005248339.3:p.Lys2469Ile
XM_006714468.2:c.7868A>T (NIPBL)	XP_006714531.1:p.Lys2623Ile
XM_017009329.1:c.*10A>T (NIPBL)	XP_016864818.1:n.*10A>T
XM_017009330.2:c.6449A>T (NIPBL)	XP_016864819.1:p.Lys2150Ile
XM_017009331.1:c.6440A>T (NIPBL)	XP_016864820.1:p.Lys2147Ile
XR_925644.2:n.12139T>A (CPLANE1)
NM_133433.4:c.8066A>T (NIPBL) MANE Select	NP_597677.2:p.Lys2689Ile
NM_015384.5:c.*520A>T (NIPBL)	NP_056199.2:n.*520A>T