Canonical Allele Identifier: CA359519025

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37061079A>T (hg19) ; chr5:g.37060977A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060977A>T , CM000667.2:g.37060977A>T	GRCh38
NC_000005.9:g.37061079A>T , CM000667.1:g.37061079A>T	GRCh37
NC_000005.8:g.37096836A>T	NCBI36
NG_006987.1:g.189095A>T
NG_006987.2:g.189095A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7819A>T MANE Select	ENSP00000282516.8:p.Thr2607Ser
ENST00000652901.1:c.7672A>T	ENSP00000499536.1:p.Thr2558Ser
ENST00000282516.12:c.7819A>T	ENSP00000282516.8:p.Thr2607Ser
ENST00000448238.2:c.7819A>T	ENSP00000406266.2:p.Thr2607Ser
ENST00000513819.1:c.263+1812A>T	ENSP00000421504.1:n.263+1812A>T
ENST00000514335.1:n.1701A>T
ENST00000621733.1:c.1-3601A>T	ENSP00000480694.1:n.1-3601A>T
NM_015384.4:c.7819A>T	NP_056199.2:p.Thr2607Ser
NM_133433.3:c.7819A>T	NP_597677.2:p.Thr2607Ser
XM_005248280.2:c.7819A>T	XP_005248337.1:p.Thr2607Ser
XM_005248282.3:c.7075A>T	XP_005248339.2:p.Thr2359Ser
XM_006714467.2:c.7672A>T	XP_006714530.1:p.Thr2558Ser
XM_006714468.1:c.7621A>T	XP_006714531.1:p.Thr2541Ser
XM_011514014.1:c.7438A>T	XP_011512316.1:p.Thr2480Ser
XM_005248280.3:c.7819A>T	XP_005248337.1:p.Thr2607Ser
XM_005248282.5:c.7159A>T	XP_005248339.3:p.Thr2387Ser
XM_006714468.2:c.7621A>T	XP_006714531.1:p.Thr2541Ser
XM_017009329.1:c.7672A>T	XP_016864818.1:p.Thr2558Ser
XM_017009330.2:c.6202A>T	XP_016864819.1:p.Thr2068Ser
XM_017009331.1:c.6193A>T	XP_016864820.1:p.Thr2065Ser
NM_133433.4:c.7819A>T MANE Select	NP_597677.2:p.Thr2607Ser
NM_015384.5:c.7819A>T	NP_056199.2:p.Thr2607Ser