Canonical Allele Identifier: CA3237347

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs778802387
• ExAC: 5:37064829 G / A
• gnomAD v2: 5-37064829-G-A
• gnomAD v4: 5-37064727-G-A
• MyVariant Identifiers: chr5:g.37064829G>A (hg19) ; chr5:g.37064727G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064727G>A , CM000667.2:g.37064727G>A	GRCh38
NC_000005.9:g.37064829G>A , CM000667.1:g.37064829G>A	GRCh37
NC_000005.8:g.37100586G>A	NCBI36
NG_006987.1:g.192845G>A
NG_006987.2:g.192845G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8250G>A (NIPBL) MANE Select	ENSP00000282516.8:p.Glu2750=
ENST00000652901.1:c.*194G>A (NIPBL)	ENSP00000499536.1:n.*194G>A
ENST00000282516.12:c.8250G>A (NIPBL)	ENSP00000282516.8:p.Glu2750=
ENST00000514335.1:n.2173G>A (NIPBL)
ENST00000621733.1:c.150G>A (NIPBL)	ENSP00000480694.1:p.Glu50=
NM_015384.4:c.*704G>A (NIPBL)	NP_056199.2:n.*704G>A
NM_133433.3:c.8250G>A (NIPBL)	NP_597677.2:p.Glu2750=
XM_005248280.2:c.*194G>A (NIPBL)	XP_005248337.1:n.*194G>A
XM_005248282.3:c.7506G>A (NIPBL)	XP_005248339.2:p.Glu2502=
XM_006714467.2:c.8103G>A (NIPBL)	XP_006714530.1:p.Glu2701=
XM_006714468.1:c.8052G>A (NIPBL)	XP_006714531.1:p.Glu2684=
XM_011514014.1:c.7869G>A (NIPBL)	XP_011512316.1:p.Glu2623=
XM_005248280.3:c.*194G>A (NIPBL)	XP_005248337.1:n.*194G>A
XM_005248282.5:c.7590G>A (NIPBL)	XP_005248339.3:p.Glu2530=
XM_006714468.2:c.8052G>A (NIPBL)	XP_006714531.1:p.Glu2684=
XM_017009329.1:c.*194G>A (NIPBL)	XP_016864818.1:n.*194G>A
XM_017009330.2:c.6633G>A (NIPBL)	XP_016864819.1:p.Glu2211=
XM_017009331.1:c.6624G>A (NIPBL)	XP_016864820.1:p.Glu2208=
XR_925644.2:n.11955C>T (CPLANE1)
NM_133433.4:c.8250G>A (NIPBL) MANE Select	NP_597677.2:p.Glu2750=
NM_015384.5:c.*704G>A (NIPBL)	NP_056199.2:n.*704G>A