Canonical Allele Identifier: CA359522484

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs779883508
• MyVariant Identifiers: chr5:g.37064771C>T (hg19) ; chr5:g.37064669C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064669C>T , CM000667.2:g.37064669C>T	GRCh38
NC_000005.9:g.37064771C>T , CM000667.1:g.37064771C>T	GRCh37
NC_000005.8:g.37100528C>T	NCBI36
NG_006987.1:g.192787C>T
NG_006987.2:g.192787C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8192C>T (NIPBL) MANE Select	ENSP00000282516.8:p.Thr2731Ile
ENST00000652901.1:c.*136C>T (NIPBL)	ENSP00000499536.1:n.*136C>T
ENST00000282516.12:c.8192C>T (NIPBL)	ENSP00000282516.8:p.Thr2731Ile
ENST00000514335.1:n.2115C>T (NIPBL)
ENST00000621733.1:c.92C>T (NIPBL)	ENSP00000480694.1:p.Thr31Ile
NM_015384.4:c.*646C>T (NIPBL)	NP_056199.2:n.*646C>T
NM_133433.3:c.8192C>T (NIPBL)	NP_597677.2:p.Thr2731Ile
XM_005248280.2:c.*136C>T (NIPBL)	XP_005248337.1:n.*136C>T
XM_005248282.3:c.7448C>T (NIPBL)	XP_005248339.2:p.Thr2483Ile
XM_006714467.2:c.8045C>T (NIPBL)	XP_006714530.1:p.Thr2682Ile
XM_006714468.1:c.7994C>T (NIPBL)	XP_006714531.1:p.Thr2665Ile
XM_011514014.1:c.7811C>T (NIPBL)	XP_011512316.1:p.Thr2604Ile
XM_005248280.3:c.*136C>T (NIPBL)	XP_005248337.1:n.*136C>T
XM_005248282.5:c.7532C>T (NIPBL)	XP_005248339.3:p.Thr2511Ile
XM_006714468.2:c.7994C>T (NIPBL)	XP_006714531.1:p.Thr2665Ile
XM_017009329.1:c.*136C>T (NIPBL)	XP_016864818.1:n.*136C>T
XM_017009330.2:c.6575C>T (NIPBL)	XP_016864819.1:p.Thr2192Ile
XM_017009331.1:c.6566C>T (NIPBL)	XP_016864820.1:p.Thr2189Ile
XR_925644.2:n.12013G>A (CPLANE1)
NM_133433.4:c.8192C>T (NIPBL) MANE Select	NP_597677.2:p.Thr2731Ile
NM_015384.5:c.*646C>T (NIPBL)	NP_056199.2:n.*646C>T