Canonical Allele Identifier: CA359513468

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.36995780G>A (hg19) ; chr5:g.36995678G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995678G>A , CM000667.2:g.36995678G>A	GRCh38
NC_000005.9:g.36995780G>A , CM000667.1:g.36995780G>A	GRCh37
NC_000005.8:g.37031537G>A	NCBI36
NG_006987.1:g.123796G>A
NG_006987.2:g.123796G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3178G>A MANE Select	ENSP00000282516.8:p.Glu1060Lys
ENST00000652901.1:c.3178G>A	ENSP00000499536.1:p.Glu1060Lys
ENST00000282516.12:c.3178G>A	ENSP00000282516.8:p.Glu1060Lys
ENST00000448238.2:c.3178G>A	ENSP00000406266.2:p.Glu1060Lys
ENST00000503274.1:n.529G>A
ENST00000504430.5:n.2798G>A
ENST00000621733.1:c.1-68900G>A	ENSP00000480694.1:n.1-68900G>A
NM_015384.4:c.3178G>A	NP_056199.2:p.Glu1060Lys
NM_133433.3:c.3178G>A	NP_597677.2:p.Glu1060Lys
XM_005248280.2:c.3178G>A	XP_005248337.1:p.Glu1060Lys
XM_005248282.3:c.2434G>A	XP_005248339.2:p.Glu812Lys
XM_006714467.2:c.3178G>A	XP_006714530.1:p.Glu1060Lys
XM_006714468.1:c.3178G>A	XP_006714531.1:p.Glu1060Lys
XM_011514014.1:c.3122-5139G>A	XP_011512316.1:n.3122-5139G>A
XM_011514015.1:c.3178G>A	XP_011512317.1:p.Glu1060Lys
XM_005248280.3:c.3178G>A	XP_005248337.1:p.Glu1060Lys
XM_005248282.5:c.2518G>A	XP_005248339.3:p.Glu840Lys
XM_006714468.2:c.3178G>A	XP_006714531.1:p.Glu1060Lys
XM_017009329.1:c.3178G>A	XP_016864818.1:p.Glu1060Lys
XM_017009330.2:c.1561G>A	XP_016864819.1:p.Glu521Lys
XM_017009331.1:c.1552G>A	XP_016864820.1:p.Glu518Lys
NM_133433.4:c.3178G>A MANE Select	NP_597677.2:p.Glu1060Lys
NM_015384.5:c.3178G>A	NP_056199.2:p.Glu1060Lys