Canonical Allele Identifier: CA444096699

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064973C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064871C>G , CM000667.2:g.37064871C>G	GRCh38
NC_000005.9:g.37064973C>G , CM000667.1:g.37064973C>G	GRCh37
NC_000005.8:g.37100730C>G	NCBI36
NG_006987.1:g.192989C>G
NG_006987.2:g.192989C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.8394C>G (NIPBL) MANE Select	ENSP00000282516.8:p.Ala2798=
ENST00000652901.1:c.*338C>G (NIPBL)	ENSP00000499536.1:n.*338C>G
ENST00000282516.12:c.8394C>G (NIPBL)	ENSP00000282516.8:p.Ala2798=
ENST00000514335.1:n.2317C>G (NIPBL)
ENST00000621733.1:c.294C>G (NIPBL)	ENSP00000480694.1:p.Ala98=
NM_015384.4:c.*848C>G (NIPBL)	NP_056199.2:n.*848C>G
NM_133433.3:c.8394C>G (NIPBL)	NP_597677.2:p.Ala2798=
XM_005248280.2:c.*338C>G (NIPBL)	XP_005248337.1:n.*338C>G
XM_005248282.3:c.7650C>G (NIPBL)	XP_005248339.2:p.Ala2550=
XM_006714467.2:c.8247C>G (NIPBL)	XP_006714530.1:p.Ala2749=
XM_006714468.1:c.8196C>G (NIPBL)	XP_006714531.1:p.Ala2732=
XM_011514014.1:c.8013C>G (NIPBL)	XP_011512316.1:p.Ala2671=
XM_005248280.3:c.*338C>G (NIPBL)	XP_005248337.1:n.*338C>G
XM_005248282.5:c.7734C>G (NIPBL)	XP_005248339.3:p.Ala2578=
XM_006714468.2:c.8196C>G (NIPBL)	XP_006714531.1:p.Ala2732=
XM_017009329.1:c.*338C>G (NIPBL)	XP_016864818.1:n.*338C>G
XM_017009330.2:c.6777C>G (NIPBL)	XP_016864819.1:p.Ala2259=
XM_017009331.1:c.6768C>G (NIPBL)	XP_016864820.1:p.Ala2256=
XR_925644.2:n.11811G>C (CPLANE1)
NM_133433.4:c.8394C>G (NIPBL) MANE Select	NP_597677.2:p.Ala2798=
NM_015384.5:c.*848C>G (NIPBL)	NP_056199.2:n.*848C>G