Canonical Allele Identifier: CA359508720

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37049230C>G (hg19) ; chr5:g.37049128C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37049128C>G , CM000667.2:g.37049128C>G	GRCh38
NC_000005.9:g.37049230C>G , CM000667.1:g.37049230C>G	GRCh37
NC_000005.8:g.37084987C>G	NCBI36
NG_006987.1:g.177246C>G
NG_006987.2:g.177246C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6781C>G MANE Select	ENSP00000282516.8:p.Gln2261Glu
ENST00000652901.1:c.6781C>G	ENSP00000499536.1:p.Gln2261Glu
ENST00000282516.12:c.6781C>G	ENSP00000282516.8:p.Gln2261Glu
ENST00000448238.2:c.6781C>G	ENSP00000406266.2:p.Gln2261Glu
ENST00000621733.1:c.1-15450C>G	ENSP00000480694.1:n.1-15450C>G
NM_015384.4:c.6781C>G	NP_056199.2:p.Gln2261Glu
NM_133433.3:c.6781C>G	NP_597677.2:p.Gln2261Glu
XM_005248280.2:c.6781C>G	XP_005248337.1:p.Gln2261Glu
XM_005248282.3:c.6037C>G	XP_005248339.2:p.Gln2013Glu
XM_006714467.2:c.6781C>G	XP_006714530.1:p.Gln2261Glu
XM_006714468.1:c.6583C>G	XP_006714531.1:p.Gln2195Glu
XM_011514014.1:c.6400C>G	XP_011512316.1:p.Gln2134Glu
XM_011514015.1:c.6781C>G	XP_011512317.1:p.Gln2261Glu
XM_005248280.3:c.6781C>G	XP_005248337.1:p.Gln2261Glu
XM_005248282.5:c.6121C>G	XP_005248339.3:p.Gln2041Glu
XM_006714468.2:c.6583C>G	XP_006714531.1:p.Gln2195Glu
XM_017009329.1:c.6781C>G	XP_016864818.1:p.Gln2261Glu
XM_017009330.2:c.5164C>G	XP_016864819.1:p.Gln1722Glu
XM_017009331.1:c.5155C>G	XP_016864820.1:p.Gln1719Glu
NM_133433.4:c.6781C>G MANE Select	NP_597677.2:p.Gln2261Glu
NM_015384.5:c.6781C>G	NP_056199.2:p.Gln2261Glu