Canonical Allele Identifier: CA1539618548

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045546A= , CM000667.2:g.37045546A=	GRCh38
NC_000005.9:g.37045648A= , CM000667.1:g.37045648A=	GRCh37
NC_000005.8:g.37081405A=	NCBI36
NG_006987.1:g.173664A=
NG_006987.2:g.173664A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6447A= MANE Select	ENSP00000282516.8:p.Ala2149=
ENST00000652901.1:c.6447A=	ENSP00000499536.1:p.Ala2149=
ENST00000282516.12:c.6447A=	ENSP00000282516.8:p.Ala2149=
ENST00000448238.2:c.6447A=	ENSP00000406266.2:p.Ala2149=
ENST00000621733.1:c.1-19032A=	ENSP00000480694.1:n.1-19032A=
NM_015384.4:c.6447A=	NP_056199.2:p.Ala2149=
NM_133433.3:c.6447A=	NP_597677.2:p.Ala2149=
XM_005248280.2:c.6447A=	XP_005248337.1:p.Ala2149=
XM_005248282.3:c.5703A=	XP_005248339.2:p.Ala1901=
XM_006714467.2:c.6447A=	XP_006714530.1:p.Ala2149=
XM_006714468.1:c.6249A=	XP_006714531.1:p.Ala2083=
XM_011514014.1:c.6066A=	XP_011512316.1:p.Ala2022=
XM_011514015.1:c.6447A=	XP_011512317.1:p.Ala2149=
XM_005248280.3:c.6447A=	XP_005248337.1:p.Ala2149=
XM_005248282.5:c.5787A=	XP_005248339.3:p.Ala1929=
XM_006714468.2:c.6249A=	XP_006714531.1:p.Ala2083=
XM_017009329.1:c.6447A=	XP_016864818.1:p.Ala2149=
XM_017009330.2:c.4830A=	XP_016864819.1:p.Ala1610=
XM_017009331.1:c.4821A=	XP_016864820.1:p.Ala1607=
NM_133433.4:c.6447A= MANE Select	NP_597677.2:p.Ala2149=
NM_015384.5:c.6447A=	NP_056199.2:p.Ala2149=