Canonical Allele Identifier: CA359521759

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064636G>A (hg19) ; chr5:g.37064534G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064534G>A , CM000667.2:g.37064534G>A	GRCh38
NC_000005.9:g.37064636G>A , CM000667.1:g.37064636G>A	GRCh37
NC_000005.8:g.37100393G>A	NCBI36
NG_006987.1:g.192652G>A
NG_006987.2:g.192652G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8057G>A (NIPBL) MANE Select	ENSP00000282516.8:p.Arg2686Lys
ENST00000652901.1:c.*1G>A (NIPBL)	ENSP00000499536.1:n.*1G>A
ENST00000282516.12:c.8057G>A (NIPBL)	ENSP00000282516.8:p.Arg2686Lys
ENST00000514335.1:n.1980G>A (NIPBL)
ENST00000621733.1:c.1-44G>A (NIPBL)	ENSP00000480694.1:n.1-44G>A
NM_015384.4:c.*511G>A (NIPBL)	NP_056199.2:n.*511G>A
NM_133433.3:c.8057G>A (NIPBL)	NP_597677.2:p.Arg2686Lys
XM_005248280.2:c.*1G>A (NIPBL)	XP_005248337.1:n.*1G>A
XM_005248282.3:c.7313G>A (NIPBL)	XP_005248339.2:p.Arg2438Lys
XM_006714467.2:c.7910G>A (NIPBL)	XP_006714530.1:p.Arg2637Lys
XM_006714468.1:c.7859G>A (NIPBL)	XP_006714531.1:p.Arg2620Lys
XM_011514014.1:c.7676G>A (NIPBL)	XP_011512316.1:p.Arg2559Lys
XM_005248280.3:c.*1G>A (NIPBL)	XP_005248337.1:n.*1G>A
XM_005248282.5:c.7397G>A (NIPBL)	XP_005248339.3:p.Arg2466Lys
XM_006714468.2:c.7859G>A (NIPBL)	XP_006714531.1:p.Arg2620Lys
XM_017009329.1:c.*1G>A (NIPBL)	XP_016864818.1:n.*1G>A
XM_017009330.2:c.6440G>A (NIPBL)	XP_016864819.1:p.Arg2147Lys
XM_017009331.1:c.6431G>A (NIPBL)	XP_016864820.1:p.Arg2144Lys
XR_925644.2:n.12148C>T (CPLANE1)
NM_133433.4:c.8057G>A (NIPBL) MANE Select	NP_597677.2:p.Arg2686Lys
NM_015384.5:c.*511G>A (NIPBL)	NP_056199.2:n.*511G>A