Canonical Allele Identifier: CA1539600000

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995625G= , CM000667.2:g.36995625G=	GRCh38
NC_000005.9:g.36995727G= , CM000667.1:g.36995727G=	GRCh37
NC_000005.8:g.37031484G=	NCBI36
NG_006987.1:g.123743G=
NG_006987.2:g.123743G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3125G= MANE Select	ENSP00000282516.8:p.Ser1042=
ENST00000652901.1:c.3125G=	ENSP00000499536.1:p.Ser1042=
ENST00000282516.12:c.3125G=	ENSP00000282516.8:p.Ser1042=
ENST00000448238.2:c.3125G=	ENSP00000406266.2:p.Ser1042=
ENST00000503274.1:n.476G=
ENST00000504430.5:n.2745G=
ENST00000621733.1:c.1-68953G=	ENSP00000480694.1:n.1-68953G=
NM_015384.4:c.3125G=	NP_056199.2:p.Ser1042=
NM_133433.3:c.3125G=	NP_597677.2:p.Ser1042=
XM_005248280.2:c.3125G=	XP_005248337.1:p.Ser1042=
XM_005248282.3:c.2381G=	XP_005248339.2:p.Ser794=
XM_006714467.2:c.3125G=	XP_006714530.1:p.Ser1042=
XM_006714468.1:c.3125G=	XP_006714531.1:p.Ser1042=
XM_011514014.1:c.3122-5192G=	XP_011512316.1:n.3122-5192G=
XM_011514015.1:c.3125G=	XP_011512317.1:p.Ser1042=
XM_005248280.3:c.3125G=	XP_005248337.1:p.Ser1042=
XM_005248282.5:c.2465G=	XP_005248339.3:p.Ser822=
XM_006714468.2:c.3125G=	XP_006714531.1:p.Ser1042=
XM_017009329.1:c.3125G=	XP_016864818.1:p.Ser1042=
XM_017009330.2:c.1508G=	XP_016864819.1:p.Ser503=
XM_017009331.1:c.1499G=	XP_016864820.1:p.Ser500=
NM_133433.4:c.3125G= MANE Select	NP_597677.2:p.Ser1042=
NM_015384.5:c.3125G=	NP_056199.2:p.Ser1042=