Canonical Allele Identifier: CA359522138

Gene: NIPBL CPLANE1

Linked Data

• COSMIC: COSM4585866
• MyVariant Identifiers: chr5:g.37064692G>A (hg19) ; chr5:g.37064590G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064590G>A , CM000667.2:g.37064590G>A	GRCh38
NC_000005.9:g.37064692G>A , CM000667.1:g.37064692G>A	GRCh37
NC_000005.8:g.37100449G>A	NCBI36
NG_006987.1:g.192708G>A
NG_006987.2:g.192708G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8113G>A (NIPBL) MANE Select	ENSP00000282516.8:p.Val2705Ile
ENST00000652901.1:c.*57G>A (NIPBL)	ENSP00000499536.1:n.*57G>A
ENST00000282516.12:c.8113G>A (NIPBL)	ENSP00000282516.8:p.Val2705Ile
ENST00000514335.1:n.2036G>A (NIPBL)
ENST00000621733.1:c.13G>A (NIPBL)	ENSP00000480694.1:p.Val5Ile
NM_015384.4:c.*567G>A (NIPBL)	NP_056199.2:n.*567G>A
NM_133433.3:c.8113G>A (NIPBL)	NP_597677.2:p.Val2705Ile
XM_005248280.2:c.*57G>A (NIPBL)	XP_005248337.1:n.*57G>A
XM_005248282.3:c.7369G>A (NIPBL)	XP_005248339.2:p.Val2457Ile
XM_006714467.2:c.7966G>A (NIPBL)	XP_006714530.1:p.Val2656Ile
XM_006714468.1:c.7915G>A (NIPBL)	XP_006714531.1:p.Val2639Ile
XM_011514014.1:c.7732G>A (NIPBL)	XP_011512316.1:p.Val2578Ile
XM_005248280.3:c.*57G>A (NIPBL)	XP_005248337.1:n.*57G>A
XM_005248282.5:c.7453G>A (NIPBL)	XP_005248339.3:p.Val2485Ile
XM_006714468.2:c.7915G>A (NIPBL)	XP_006714531.1:p.Val2639Ile
XM_017009329.1:c.*57G>A (NIPBL)	XP_016864818.1:n.*57G>A
XM_017009330.2:c.6496G>A (NIPBL)	XP_016864819.1:p.Val2166Ile
XM_017009331.1:c.6487G>A (NIPBL)	XP_016864820.1:p.Val2163Ile
XR_925644.2:n.12092C>T (CPLANE1)
NM_133433.4:c.8113G>A (NIPBL) MANE Select	NP_597677.2:p.Val2705Ile
NM_015384.5:c.*567G>A (NIPBL)	NP_056199.2:n.*567G>A