Canonical Allele Identifier: CA359504270

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045490A>G , CM000667.2:g.37045490A>G	GRCh38
NC_000005.9:g.37045592A>G , CM000667.1:g.37045592A>G	GRCh37
NC_000005.8:g.37081349A>G	NCBI36
NG_006987.1:g.173608A>G
NG_006987.2:g.173608A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_133433.4:c.6391A>G MANE Select	NP_597677.2:p.Thr2131Ala
ENST00000282516.13:c.6391A>G MANE Select	ENSP00000282516.8:p.Thr2131Ala
NM_015384.4:c.6391A>G	NP_056199.2:p.Thr2131Ala
NM_015384.5:c.6391A>G	NP_056199.2:p.Thr2131Ala
NM_133433.3:c.6391A>G	NP_597677.2:p.Thr2131Ala
ENST00000282516.12:c.6391A>G	ENSP00000282516.8:p.Thr2131Ala
ENST00000448238.2:c.6391A>G	ENSP00000406266.2:p.Thr2131Ala
ENST00000621733.1:c.1-19088A>G	ENSP00000480694.1:n.1-19088A>G
ENST00000652901.1:c.6391A>G	ENSP00000499536.1:p.Thr2131Ala
XM_005248280.2:c.6391A>G	XP_005248337.1:p.Thr2131Ala
XM_005248280.3:c.6391A>G	XP_005248337.1:p.Thr2131Ala
XM_005248282.3:c.5647A>G	XP_005248339.2:p.Thr1883Ala
XM_005248282.5:c.5731A>G	XP_005248339.3:p.Thr1911Ala
XM_006714467.2:c.6391A>G	XP_006714530.1:p.Thr2131Ala
XM_006714468.1:c.6193A>G	XP_006714531.1:p.Thr2065Ala
XM_006714468.2:c.6193A>G	XP_006714531.1:p.Thr2065Ala
XM_011514014.1:c.6010A>G	XP_011512316.1:p.Thr2004Ala
XM_011514015.1:c.6391A>G	XP_011512317.1:p.Thr2131Ala
XM_017009329.1:c.6391A>G	XP_016864818.1:p.Thr2131Ala
XM_017009330.2:c.4774A>G	XP_016864819.1:p.Thr1592Ala
XM_017009331.1:c.4765A>G	XP_016864820.1:p.Thr1589Ala