Canonical Allele Identifier: CA1539584143

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020662T= , CM000667.2:g.37020662T=	GRCh38
NC_000005.9:g.37020764T= , CM000667.1:g.37020764T=	GRCh37
NC_000005.8:g.37056521T=	NCBI36
NG_006987.1:g.148780T=
NG_006987.2:g.148780T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5214T= MANE Select	ENSP00000282516.8:p.Phe1738=
ENST00000652901.1:c.5214T=	ENSP00000499536.1:p.Phe1738=
ENST00000282516.12:c.5214T=	ENSP00000282516.8:p.Phe1738=
ENST00000448238.2:c.5214T=	ENSP00000406266.2:p.Phe1738=
ENST00000621733.1:c.1-43916T=	ENSP00000480694.1:n.1-43916T=
NM_015384.4:c.5214T=	NP_056199.2:p.Phe1738=
NM_133433.3:c.5214T=	NP_597677.2:p.Phe1738=
XM_005248280.2:c.5214T=	XP_005248337.1:p.Phe1738=
XM_005248282.3:c.4470T=	XP_005248339.2:p.Phe1490=
XM_006714467.2:c.5214T=	XP_006714530.1:p.Phe1738=
XM_006714468.1:c.5016T=	XP_006714531.1:p.Phe1672=
XM_011514014.1:c.4833T=	XP_011512316.1:p.Phe1611=
XM_011514015.1:c.5214T=	XP_011512317.1:p.Phe1738=
XM_005248280.3:c.5214T=	XP_005248337.1:p.Phe1738=
XM_005248282.5:c.4554T=	XP_005248339.3:p.Phe1518=
XM_006714468.2:c.5016T=	XP_006714531.1:p.Phe1672=
XM_017009329.1:c.5214T=	XP_016864818.1:p.Phe1738=
XM_017009330.2:c.3597T=	XP_016864819.1:p.Phe1199=
XM_017009331.1:c.3588T=	XP_016864820.1:p.Phe1196=
NM_133433.4:c.5214T= MANE Select	NP_597677.2:p.Phe1738=
NM_015384.5:c.5214T=	NP_056199.2:p.Phe1738=