Canonical Allele Identifier: CA1539583027

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060884T= , CM000667.2:g.37060884T=	GRCh38
NC_000005.9:g.37060986T= , CM000667.1:g.37060986T=	GRCh37
NC_000005.8:g.37096743T=	NCBI36
NG_006987.1:g.189002T=
NG_006987.2:g.189002T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7726T= MANE Select	ENSP00000282516.8:p.Tyr2576=
ENST00000652901.1:c.7579T=	ENSP00000499536.1:p.Tyr2527=
ENST00000282516.12:c.7726T=	ENSP00000282516.8:p.Tyr2576=
ENST00000448238.2:c.7726T=	ENSP00000406266.2:p.Tyr2576=
ENST00000513819.1:c.263+1719T=	ENSP00000421504.1:n.263+1719T=
ENST00000514335.1:n.1608T=
ENST00000621733.1:c.1-3694T=	ENSP00000480694.1:n.1-3694T=
NM_015384.4:c.7726T=	NP_056199.2:p.Tyr2576=
NM_133433.3:c.7726T=	NP_597677.2:p.Tyr2576=
XM_005248280.2:c.7726T=	XP_005248337.1:p.Tyr2576=
XM_005248282.3:c.6982T=	XP_005248339.2:p.Tyr2328=
XM_006714467.2:c.7579T=	XP_006714530.1:p.Tyr2527=
XM_006714468.1:c.7528T=	XP_006714531.1:p.Tyr2510=
XM_011514014.1:c.7345T=	XP_011512316.1:p.Tyr2449=
XM_011514015.1:c.*38T=	XP_011512317.1:n.*38T=
XM_005248280.3:c.7726T=	XP_005248337.1:p.Tyr2576=
XM_005248282.5:c.7066T=	XP_005248339.3:p.Tyr2356=
XM_006714468.2:c.7528T=	XP_006714531.1:p.Tyr2510=
XM_017009329.1:c.7579T=	XP_016864818.1:p.Tyr2527=
XM_017009330.2:c.6109T=	XP_016864819.1:p.Tyr2037=
XM_017009331.1:c.6100T=	XP_016864820.1:p.Tyr2034=
NM_133433.4:c.7726T= MANE Select	NP_597677.2:p.Tyr2576=
NM_015384.5:c.7726T=	NP_056199.2:p.Tyr2576=