Canonical Allele Identifier: CA359504172

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045477G>C , CM000667.2:g.37045477G>C	GRCh38
NC_000005.9:g.37045579G>C , CM000667.1:g.37045579G>C	GRCh37
NC_000005.8:g.37081336G>C	NCBI36
NG_006987.1:g.173595G>C
NG_006987.2:g.173595G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_133433.4:c.6378G>C MANE Select	NP_597677.2:p.Glu2126Asp
ENST00000282516.13:c.6378G>C MANE Select	ENSP00000282516.8:p.Glu2126Asp
NM_015384.4:c.6378G>C	NP_056199.2:p.Glu2126Asp
NM_015384.5:c.6378G>C	NP_056199.2:p.Glu2126Asp
NM_133433.3:c.6378G>C	NP_597677.2:p.Glu2126Asp
ENST00000282516.12:c.6378G>C	ENSP00000282516.8:p.Glu2126Asp
ENST00000448238.2:c.6378G>C	ENSP00000406266.2:p.Glu2126Asp
ENST00000621733.1:c.1-19101G>C	ENSP00000480694.1:n.1-19101G>C
ENST00000652901.1:c.6378G>C	ENSP00000499536.1:p.Glu2126Asp
XM_005248280.2:c.6378G>C	XP_005248337.1:p.Glu2126Asp
XM_005248280.3:c.6378G>C	XP_005248337.1:p.Glu2126Asp
XM_005248282.3:c.5634G>C	XP_005248339.2:p.Glu1878Asp
XM_005248282.5:c.5718G>C	XP_005248339.3:p.Glu1906Asp
XM_006714467.2:c.6378G>C	XP_006714530.1:p.Glu2126Asp
XM_006714468.1:c.6180G>C	XP_006714531.1:p.Glu2060Asp
XM_006714468.2:c.6180G>C	XP_006714531.1:p.Glu2060Asp
XM_011514014.1:c.5997G>C	XP_011512316.1:p.Glu1999Asp
XM_011514015.1:c.6378G>C	XP_011512317.1:p.Glu2126Asp
XM_017009329.1:c.6378G>C	XP_016864818.1:p.Glu2126Asp
XM_017009330.2:c.4761G>C	XP_016864819.1:p.Glu1587Asp
XM_017009331.1:c.4752G>C	XP_016864820.1:p.Glu1584Asp