Canonical Allele Identifier: CA359483439

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 1717168
• ClinVar RCV Id: RCV002296332
• dbSNP Id: rs1743388549
• MyVariant Identifiers: chr5:g.36976013A>G (hg19) ; chr5:g.36975911A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36975911A>G , CM000667.2:g.36975911A>G	GRCh38
NC_000005.9:g.36976013A>G , CM000667.1:g.36976013A>G	GRCh37
NC_000005.8:g.37011770A>G	NCBI36
NG_006987.1:g.104029A>G
NG_006987.2:g.104029A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.1004A>G MANE Select	ENSP00000282516.8:p.Glu335Gly
ENST00000652901.1:c.1004A>G	ENSP00000499536.1:p.Glu335Gly
ENST00000282516.12:c.1004A>G	ENSP00000282516.8:p.Glu335Gly
ENST00000448238.2:c.1004A>G	ENSP00000406266.2:p.Glu335Gly
ENST00000504430.5:n.624A>G
ENST00000621733.1:c.1-88667A>G	ENSP00000480694.1:n.1-88667A>G
NM_015384.4:c.1004A>G	NP_056199.2:p.Glu335Gly
NM_133433.3:c.1004A>G	NP_597677.2:p.Glu335Gly
XM_005248280.2:c.1004A>G	XP_005248337.1:p.Glu335Gly
XM_005248282.3:c.260A>G	XP_005248339.2:p.Glu87Gly
XM_006714467.2:c.1004A>G	XP_006714530.1:p.Glu335Gly
XM_006714468.1:c.1004A>G	XP_006714531.1:p.Glu335Gly
XM_011514014.1:c.1004A>G	XP_011512316.1:p.Glu335Gly
XM_011514015.1:c.1004A>G	XP_011512317.1:p.Glu335Gly
XM_005248280.3:c.1004A>G	XP_005248337.1:p.Glu335Gly
XM_005248282.5:c.344A>G	XP_005248339.3:p.Glu115Gly
XM_006714468.2:c.1004A>G	XP_006714531.1:p.Glu335Gly
XM_017009329.1:c.1004A>G	XP_016864818.1:p.Glu335Gly
XM_017009331.1:c.1004A>G	XP_016864820.1:p.Glu335Gly
NM_133433.4:c.1004A>G MANE Select	NP_597677.2:p.Glu335Gly
NM_015384.5:c.1004A>G	NP_056199.2:p.Glu335Gly