Canonical Allele Identifier: CA359483439
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1717168
ClinVar RCV Id: RCV002296332
dbSNP Id: rs1743388549

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