Canonical Allele Identifier: CA443911555

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37052530A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052428A>T , CM000667.2:g.37052428A>T	GRCh38
NC_000005.9:g.37052530A>T , CM000667.1:g.37052530A>T	GRCh37
NC_000005.8:g.37088287A>T	NCBI36
NG_006987.1:g.180546A>T
NG_006987.2:g.180546A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.7125A>T MANE Select	ENSP00000282516.8:p.Leu2375=
ENST00000652901.1:c.7125A>T	ENSP00000499536.1:p.Leu2375=
ENST00000282516.12:c.7125A>T	ENSP00000282516.8:p.Leu2375=
ENST00000448238.2:c.7125A>T	ENSP00000406266.2:p.Leu2375=
ENST00000514335.1:n.1007A>T
ENST00000621733.1:c.1-12150A>T	ENSP00000480694.1:n.1-12150A>T
NM_015384.4:c.7125A>T	NP_056199.2:p.Leu2375=
NM_133433.3:c.7125A>T	NP_597677.2:p.Leu2375=
XM_005248280.2:c.7125A>T	XP_005248337.1:p.Leu2375=
XM_005248282.3:c.6381A>T	XP_005248339.2:p.Leu2127=
XM_006714467.2:c.7125A>T	XP_006714530.1:p.Leu2375=
XM_006714468.1:c.6927A>T	XP_006714531.1:p.Leu2309=
XM_011514014.1:c.6744A>T	XP_011512316.1:p.Leu2248=
XM_011514015.1:c.7125A>T	XP_011512317.1:p.Leu2375=
XM_005248280.3:c.7125A>T	XP_005248337.1:p.Leu2375=
XM_005248282.5:c.6465A>T	XP_005248339.3:p.Leu2155=
XM_006714468.2:c.6927A>T	XP_006714531.1:p.Leu2309=
XM_017009329.1:c.7125A>T	XP_016864818.1:p.Leu2375=
XM_017009330.2:c.5508A>T	XP_016864819.1:p.Leu1836=
XM_017009331.1:c.5499A>T	XP_016864820.1:p.Leu1833=
NM_133433.4:c.7125A>T MANE Select	NP_597677.2:p.Leu2375=
NM_015384.5:c.7125A>T	NP_056199.2:p.Leu2375=