Canonical Allele Identifier: CA443916424

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064688A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064586A>G , CM000667.2:g.37064586A>G	GRCh38
NC_000005.9:g.37064688A>G , CM000667.1:g.37064688A>G	GRCh37
NC_000005.8:g.37100445A>G	NCBI36
NG_006987.1:g.192704A>G
NG_006987.2:g.192704A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8109A>G (NIPBL) MANE Select	ENSP00000282516.8:p.Glu2703=
ENST00000652901.1:c.*53A>G (NIPBL)	ENSP00000499536.1:n.*53A>G
ENST00000282516.12:c.8109A>G (NIPBL)	ENSP00000282516.8:p.Glu2703=
ENST00000514335.1:n.2032A>G (NIPBL)
ENST00000621733.1:c.9A>G (NIPBL)	ENSP00000480694.1:p.Glu3=
NM_015384.4:c.*563A>G (NIPBL)	NP_056199.2:n.*563A>G
NM_133433.3:c.8109A>G (NIPBL)	NP_597677.2:p.Glu2703=
XM_005248280.2:c.*53A>G (NIPBL)	XP_005248337.1:n.*53A>G
XM_005248282.3:c.7365A>G (NIPBL)	XP_005248339.2:p.Glu2455=
XM_006714467.2:c.7962A>G (NIPBL)	XP_006714530.1:p.Glu2654=
XM_006714468.1:c.7911A>G (NIPBL)	XP_006714531.1:p.Glu2637=
XM_011514014.1:c.7728A>G (NIPBL)	XP_011512316.1:p.Glu2576=
XM_005248280.3:c.*53A>G (NIPBL)	XP_005248337.1:n.*53A>G
XM_005248282.5:c.7449A>G (NIPBL)	XP_005248339.3:p.Glu2483=
XM_006714468.2:c.7911A>G (NIPBL)	XP_006714531.1:p.Glu2637=
XM_017009329.1:c.*53A>G (NIPBL)	XP_016864818.1:n.*53A>G
XM_017009330.2:c.6492A>G (NIPBL)	XP_016864819.1:p.Glu2164=
XM_017009331.1:c.6483A>G (NIPBL)	XP_016864820.1:p.Glu2161=
XR_925644.2:n.12096T>C (CPLANE1)
NM_133433.4:c.8109A>G (NIPBL) MANE Select	NP_597677.2:p.Glu2703=
NM_015384.5:c.*563A>G (NIPBL)	NP_056199.2:n.*563A>G