Canonical Allele Identifier: CA443905014

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37020680T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020578T>C , CM000667.2:g.37020578T>C	GRCh38
NC_000005.9:g.37020680T>C , CM000667.1:g.37020680T>C	GRCh37
NC_000005.8:g.37056437T>C	NCBI36
NG_006987.1:g.148696T>C
NG_006987.2:g.148696T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5130T>C MANE Select	ENSP00000282516.8:p.Ile1710=
ENST00000652901.1:c.5130T>C	ENSP00000499536.1:p.Ile1710=
ENST00000282516.12:c.5130T>C	ENSP00000282516.8:p.Ile1710=
ENST00000448238.2:c.5130T>C	ENSP00000406266.2:p.Ile1710=
ENST00000621733.1:c.1-44000T>C	ENSP00000480694.1:n.1-44000T>C
NM_015384.4:c.5130T>C	NP_056199.2:p.Ile1710=
NM_133433.3:c.5130T>C	NP_597677.2:p.Ile1710=
XM_005248280.2:c.5130T>C	XP_005248337.1:p.Ile1710=
XM_005248282.3:c.4386T>C	XP_005248339.2:p.Ile1462=
XM_006714467.2:c.5130T>C	XP_006714530.1:p.Ile1710=
XM_006714468.1:c.4932T>C	XP_006714531.1:p.Ile1644=
XM_011514014.1:c.4749T>C	XP_011512316.1:p.Ile1583=
XM_011514015.1:c.5130T>C	XP_011512317.1:p.Ile1710=
XM_005248280.3:c.5130T>C	XP_005248337.1:p.Ile1710=
XM_005248282.5:c.4470T>C	XP_005248339.3:p.Ile1490=
XM_006714468.2:c.4932T>C	XP_006714531.1:p.Ile1644=
XM_017009329.1:c.5130T>C	XP_016864818.1:p.Ile1710=
XM_017009330.2:c.3513T>C	XP_016864819.1:p.Ile1171=
XM_017009331.1:c.3504T>C	XP_016864820.1:p.Ile1168=
NM_133433.4:c.5130T>C MANE Select	NP_597677.2:p.Ile1710=
NM_015384.5:c.5130T>C	NP_056199.2:p.Ile1710=