Canonical Allele Identifier: CA1539569646

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36976191C= , CM000667.2:g.36976191C=	GRCh38
NC_000005.9:g.36976293C= , CM000667.1:g.36976293C=	GRCh37
NC_000005.8:g.37012050C=	NCBI36
NG_006987.1:g.104309C=
NG_006987.2:g.104309C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.1284C= MANE Select	ENSP00000282516.8:p.Phe428=
ENST00000652901.1:c.1284C=	ENSP00000499536.1:p.Phe428=
ENST00000282516.12:c.1284C=	ENSP00000282516.8:p.Phe428=
ENST00000448238.2:c.1284C=	ENSP00000406266.2:p.Phe428=
ENST00000504430.5:n.904C=
ENST00000621733.1:c.1-88387C=	ENSP00000480694.1:n.1-88387C=
NM_015384.4:c.1284C=	NP_056199.2:p.Phe428=
NM_133433.3:c.1284C=	NP_597677.2:p.Phe428=
XM_005248280.2:c.1284C=	XP_005248337.1:p.Phe428=
XM_005248282.3:c.540C=	XP_005248339.2:p.Phe180=
XM_006714467.2:c.1284C=	XP_006714530.1:p.Phe428=
XM_006714468.1:c.1284C=	XP_006714531.1:p.Phe428=
XM_011514014.1:c.1284C=	XP_011512316.1:p.Phe428=
XM_011514015.1:c.1284C=	XP_011512317.1:p.Phe428=
XM_005248280.3:c.1284C=	XP_005248337.1:p.Phe428=
XM_005248282.5:c.624C=	XP_005248339.3:p.Phe208=
XM_006714468.2:c.1284C=	XP_006714531.1:p.Phe428=
XM_017009329.1:c.1284C=	XP_016864818.1:p.Phe428=
XM_017009331.1:c.1284C=	XP_016864820.1:p.Phe428=
NM_133433.4:c.1284C= MANE Select	NP_597677.2:p.Phe428=
NM_015384.5:c.1284C=	NP_056199.2:p.Phe428=