Canonical Allele Identifier: CA359522244

Gene: NIPBL CPLANE1

Linked Data

• COSMIC: COSM1067739
• MyVariant Identifiers: chr5:g.37064713G>A (hg19) ; chr5:g.37064611G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064611G>A , CM000667.2:g.37064611G>A	GRCh38
NC_000005.9:g.37064713G>A , CM000667.1:g.37064713G>A	GRCh37
NC_000005.8:g.37100470G>A	NCBI36
NG_006987.1:g.192729G>A
NG_006987.2:g.192729G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8134G>A (NIPBL) MANE Select	ENSP00000282516.8:p.Ala2712Thr
ENST00000652901.1:c.*78G>A (NIPBL)	ENSP00000499536.1:n.*78G>A
ENST00000282516.12:c.8134G>A (NIPBL)	ENSP00000282516.8:p.Ala2712Thr
ENST00000514335.1:n.2057G>A (NIPBL)
ENST00000621733.1:c.34G>A (NIPBL)	ENSP00000480694.1:p.Ala12Thr
NM_015384.4:c.*588G>A (NIPBL)	NP_056199.2:n.*588G>A
NM_133433.3:c.8134G>A (NIPBL)	NP_597677.2:p.Ala2712Thr
XM_005248280.2:c.*78G>A (NIPBL)	XP_005248337.1:n.*78G>A
XM_005248282.3:c.7390G>A (NIPBL)	XP_005248339.2:p.Ala2464Thr
XM_006714467.2:c.7987G>A (NIPBL)	XP_006714530.1:p.Ala2663Thr
XM_006714468.1:c.7936G>A (NIPBL)	XP_006714531.1:p.Ala2646Thr
XM_011514014.1:c.7753G>A (NIPBL)	XP_011512316.1:p.Ala2585Thr
XM_005248280.3:c.*78G>A (NIPBL)	XP_005248337.1:n.*78G>A
XM_005248282.5:c.7474G>A (NIPBL)	XP_005248339.3:p.Ala2492Thr
XM_006714468.2:c.7936G>A (NIPBL)	XP_006714531.1:p.Ala2646Thr
XM_017009329.1:c.*78G>A (NIPBL)	XP_016864818.1:n.*78G>A
XM_017009330.2:c.6517G>A (NIPBL)	XP_016864819.1:p.Ala2173Thr
XM_017009331.1:c.6508G>A (NIPBL)	XP_016864820.1:p.Ala2170Thr
XR_925644.2:n.12071C>T (CPLANE1)
NM_133433.4:c.8134G>A (NIPBL) MANE Select	NP_597677.2:p.Ala2712Thr
NM_015384.5:c.*588G>A (NIPBL)	NP_056199.2:n.*588G>A