Canonical Allele Identifier: CA359523847

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064972C>T (hg19) ; chr5:g.37064870C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064870C>T , CM000667.2:g.37064870C>T	GRCh38
NC_000005.9:g.37064972C>T , CM000667.1:g.37064972C>T	GRCh37
NC_000005.8:g.37100729C>T	NCBI36
NG_006987.1:g.192988C>T
NG_006987.2:g.192988C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.8393C>T (NIPBL) MANE Select	ENSP00000282516.8:p.Ala2798Val
ENST00000652901.1:c.*337C>T (NIPBL)	ENSP00000499536.1:n.*337C>T
ENST00000282516.12:c.8393C>T (NIPBL)	ENSP00000282516.8:p.Ala2798Val
ENST00000514335.1:n.2316C>T (NIPBL)
ENST00000621733.1:c.293C>T (NIPBL)	ENSP00000480694.1:p.Ala98Val
NM_015384.4:c.*847C>T (NIPBL)	NP_056199.2:n.*847C>T
NM_133433.3:c.8393C>T (NIPBL)	NP_597677.2:p.Ala2798Val
XM_005248280.2:c.*337C>T (NIPBL)	XP_005248337.1:n.*337C>T
XM_005248282.3:c.7649C>T (NIPBL)	XP_005248339.2:p.Ala2550Val
XM_006714467.2:c.8246C>T (NIPBL)	XP_006714530.1:p.Ala2749Val
XM_006714468.1:c.8195C>T (NIPBL)	XP_006714531.1:p.Ala2732Val
XM_011514014.1:c.8012C>T (NIPBL)	XP_011512316.1:p.Ala2671Val
XM_005248280.3:c.*337C>T (NIPBL)	XP_005248337.1:n.*337C>T
XM_005248282.5:c.7733C>T (NIPBL)	XP_005248339.3:p.Ala2578Val
XM_006714468.2:c.8195C>T (NIPBL)	XP_006714531.1:p.Ala2732Val
XM_017009329.1:c.*337C>T (NIPBL)	XP_016864818.1:n.*337C>T
XM_017009330.2:c.6776C>T (NIPBL)	XP_016864819.1:p.Ala2259Val
XM_017009331.1:c.6767C>T (NIPBL)	XP_016864820.1:p.Ala2256Val
XR_925644.2:n.11812G>A (CPLANE1)
NM_133433.4:c.8393C>T (NIPBL) MANE Select	NP_597677.2:p.Ala2798Val
NM_015384.5:c.*847C>T (NIPBL)	NP_056199.2:n.*847C>T