Canonical Allele Identifier: CA443905152

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37020886T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020784T>A , CM000667.2:g.37020784T>A	GRCh38
NC_000005.9:g.37020886T>A , CM000667.1:g.37020886T>A	GRCh37
NC_000005.8:g.37056643T>A	NCBI36
NG_006987.1:g.148902T>A
NG_006987.2:g.148902T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5235T>A MANE Select	ENSP00000282516.8:p.Ser1745=
ENST00000652901.1:c.5235T>A	ENSP00000499536.1:p.Ser1745=
ENST00000282516.12:c.5235T>A	ENSP00000282516.8:p.Ser1745=
ENST00000448238.2:c.5235T>A	ENSP00000406266.2:p.Ser1745=
ENST00000621733.1:c.1-43794T>A	ENSP00000480694.1:n.1-43794T>A
NM_015384.4:c.5235T>A	NP_056199.2:p.Ser1745=
NM_133433.3:c.5235T>A	NP_597677.2:p.Ser1745=
XM_005248280.2:c.5235T>A	XP_005248337.1:p.Ser1745=
XM_005248282.3:c.4491T>A	XP_005248339.2:p.Ser1497=
XM_006714467.2:c.5235T>A	XP_006714530.1:p.Ser1745=
XM_006714468.1:c.5037T>A	XP_006714531.1:p.Ser1679=
XM_011514014.1:c.4854T>A	XP_011512316.1:p.Ser1618=
XM_011514015.1:c.5235T>A	XP_011512317.1:p.Ser1745=
XM_005248280.3:c.5235T>A	XP_005248337.1:p.Ser1745=
XM_005248282.5:c.4575T>A	XP_005248339.3:p.Ser1525=
XM_006714468.2:c.5037T>A	XP_006714531.1:p.Ser1679=
XM_017009329.1:c.5235T>A	XP_016864818.1:p.Ser1745=
XM_017009330.2:c.3618T>A	XP_016864819.1:p.Ser1206=
XM_017009331.1:c.3609T>A	XP_016864820.1:p.Ser1203=
NM_133433.4:c.5235T>A MANE Select	NP_597677.2:p.Ser1745=
NM_015384.5:c.5235T>A	NP_056199.2:p.Ser1745=