Canonical Allele Identifier: CA359487305

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37020729C>A (hg19) ; chr5:g.37020627C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020627C>A , CM000667.2:g.37020627C>A	GRCh38
NC_000005.9:g.37020729C>A , CM000667.1:g.37020729C>A	GRCh37
NC_000005.8:g.37056486C>A	NCBI36
NG_006987.1:g.148745C>A
NG_006987.2:g.148745C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.5179C>A MANE Select	ENSP00000282516.8:p.Leu1727Ile
ENST00000652901.1:c.5179C>A	ENSP00000499536.1:p.Leu1727Ile
ENST00000282516.12:c.5179C>A	ENSP00000282516.8:p.Leu1727Ile
ENST00000448238.2:c.5179C>A	ENSP00000406266.2:p.Leu1727Ile
ENST00000621733.1:c.1-43951C>A	ENSP00000480694.1:n.1-43951C>A
NM_015384.4:c.5179C>A	NP_056199.2:p.Leu1727Ile
NM_133433.3:c.5179C>A	NP_597677.2:p.Leu1727Ile
XM_005248280.2:c.5179C>A	XP_005248337.1:p.Leu1727Ile
XM_005248282.3:c.4435C>A	XP_005248339.2:p.Leu1479Ile
XM_006714467.2:c.5179C>A	XP_006714530.1:p.Leu1727Ile
XM_006714468.1:c.4981C>A	XP_006714531.1:p.Leu1661Ile
XM_011514014.1:c.4798C>A	XP_011512316.1:p.Leu1600Ile
XM_011514015.1:c.5179C>A	XP_011512317.1:p.Leu1727Ile
XM_005248280.3:c.5179C>A	XP_005248337.1:p.Leu1727Ile
XM_005248282.5:c.4519C>A	XP_005248339.3:p.Leu1507Ile
XM_006714468.2:c.4981C>A	XP_006714531.1:p.Leu1661Ile
XM_017009329.1:c.5179C>A	XP_016864818.1:p.Leu1727Ile
XM_017009330.2:c.3562C>A	XP_016864819.1:p.Leu1188Ile
XM_017009331.1:c.3553C>A	XP_016864820.1:p.Leu1185Ile
NM_133433.4:c.5179C>A MANE Select	NP_597677.2:p.Leu1727Ile
NM_015384.5:c.5179C>A	NP_056199.2:p.Leu1727Ile