Canonical Allele Identifier: CA1539618609

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045591C= , CM000667.2:g.37045591C=	GRCh38
NC_000005.9:g.37045693C= , CM000667.1:g.37045693C=	GRCh37
NC_000005.8:g.37081450C=	NCBI36
NG_006987.1:g.173709C=
NG_006987.2:g.173709C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6492C= MANE Select	ENSP00000282516.8:p.Asn2164=
ENST00000652901.1:c.6492C=	ENSP00000499536.1:p.Asn2164=
ENST00000282516.12:c.6492C=	ENSP00000282516.8:p.Asn2164=
ENST00000448238.2:c.6492C=	ENSP00000406266.2:p.Asn2164=
ENST00000621733.1:c.1-18987C=	ENSP00000480694.1:n.1-18987C=
NM_015384.4:c.6492C=	NP_056199.2:p.Asn2164=
NM_133433.3:c.6492C=	NP_597677.2:p.Asn2164=
XM_005248280.2:c.6492C=	XP_005248337.1:p.Asn2164=
XM_005248282.3:c.5748C=	XP_005248339.2:p.Asn1916=
XM_006714467.2:c.6492C=	XP_006714530.1:p.Asn2164=
XM_006714468.1:c.6294C=	XP_006714531.1:p.Asn2098=
XM_011514014.1:c.6111C=	XP_011512316.1:p.Asn2037=
XM_011514015.1:c.6492C=	XP_011512317.1:p.Asn2164=
XM_005248280.3:c.6492C=	XP_005248337.1:p.Asn2164=
XM_005248282.5:c.5832C=	XP_005248339.3:p.Asn1944=
XM_006714468.2:c.6294C=	XP_006714531.1:p.Asn2098=
XM_017009329.1:c.6492C=	XP_016864818.1:p.Asn2164=
XM_017009330.2:c.4875C=	XP_016864819.1:p.Asn1625=
XM_017009331.1:c.4866C=	XP_016864820.1:p.Asn1622=
NM_133433.4:c.6492C= MANE Select	NP_597677.2:p.Asn2164=
NM_015384.5:c.6492C=	NP_056199.2:p.Asn2164=