Canonical Allele Identifier: CA444096547

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064841T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064739T>C , CM000667.2:g.37064739T>C	GRCh38
NC_000005.9:g.37064841T>C , CM000667.1:g.37064841T>C	GRCh37
NC_000005.8:g.37100598T>C	NCBI36
NG_006987.1:g.192857T>C
NG_006987.2:g.192857T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8262T>C (NIPBL) MANE Select	ENSP00000282516.8:p.Arg2754=
ENST00000652901.1:c.*206T>C (NIPBL)	ENSP00000499536.1:n.*206T>C
ENST00000282516.12:c.8262T>C (NIPBL)	ENSP00000282516.8:p.Arg2754=
ENST00000514335.1:n.2185T>C (NIPBL)
ENST00000621733.1:c.162T>C (NIPBL)	ENSP00000480694.1:p.Arg54=
NM_015384.4:c.*716T>C (NIPBL)	NP_056199.2:n.*716T>C
NM_133433.3:c.8262T>C (NIPBL)	NP_597677.2:p.Arg2754=
XM_005248280.2:c.*206T>C (NIPBL)	XP_005248337.1:n.*206T>C
XM_005248282.3:c.7518T>C (NIPBL)	XP_005248339.2:p.Arg2506=
XM_006714467.2:c.8115T>C (NIPBL)	XP_006714530.1:p.Arg2705=
XM_006714468.1:c.8064T>C (NIPBL)	XP_006714531.1:p.Arg2688=
XM_011514014.1:c.7881T>C (NIPBL)	XP_011512316.1:p.Arg2627=
XM_005248280.3:c.*206T>C (NIPBL)	XP_005248337.1:n.*206T>C
XM_005248282.5:c.7602T>C (NIPBL)	XP_005248339.3:p.Arg2534=
XM_006714468.2:c.8064T>C (NIPBL)	XP_006714531.1:p.Arg2688=
XM_017009329.1:c.*206T>C (NIPBL)	XP_016864818.1:n.*206T>C
XM_017009330.2:c.6645T>C (NIPBL)	XP_016864819.1:p.Arg2215=
XM_017009331.1:c.6636T>C (NIPBL)	XP_016864820.1:p.Arg2212=
XR_925644.2:n.11943A>G (CPLANE1)
NM_133433.4:c.8262T>C (NIPBL) MANE Select	NP_597677.2:p.Arg2754=
NM_015384.5:c.*716T>C (NIPBL)	NP_056199.2:n.*716T>C