Canonical Allele Identifier: CA1539578142

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36958120C= , CM000667.2:g.36958120C=	GRCh38
NC_000005.9:g.36958222C= , CM000667.1:g.36958222C=	GRCh37
NC_000005.8:g.36993979C=	NCBI36
NG_006987.1:g.86238C=
NG_006987.2:g.86238C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.247C= MANE Select	ENSP00000282516.8:p.Leu83=
ENST00000652901.1:c.247C=	ENSP00000499536.1:p.Leu83=
ENST00000282516.12:c.247C=	ENSP00000282516.8:p.Leu83=
ENST00000448238.2:c.247C=	ENSP00000406266.2:p.Leu83=
ENST00000505998.5:n.226C=
ENST00000621733.1:c.-1+81098C=	ENSP00000480694.1:n.-1+81098C=
NM_015384.4:c.247C=	NP_056199.2:p.Leu83=
NM_133433.3:c.247C=	NP_597677.2:p.Leu83=
XM_005248280.2:c.247C=	XP_005248337.1:p.Leu83=
XM_006714467.2:c.247C=	XP_006714530.1:p.Leu83=
XM_006714468.1:c.247C=	XP_006714531.1:p.Leu83=
XM_011514014.1:c.247C=	XP_011512316.1:p.Leu83=
XM_011514015.1:c.247C=	XP_011512317.1:p.Leu83=
XM_005248280.3:c.247C=	XP_005248337.1:p.Leu83=
XM_006714468.2:c.247C=	XP_006714531.1:p.Leu83=
XM_017009329.1:c.247C=	XP_016864818.1:p.Leu83=
XM_017009331.1:c.247C=	XP_016864820.1:p.Leu83=
NM_133433.4:c.247C= MANE Select	NP_597677.2:p.Leu83=
NM_015384.5:c.247C=	NP_056199.2:p.Leu83=