Canonical Allele Identifier: CA272245
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159202
ClinVar RCV Id: RCV000146696
dbSNP Id: rs587784017
MyVariant Identifiers: chr5:g.37048604G>A (hg19) chr5:g.37048502G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37048502G>A , CM000667.2:g.37048502G>A GRCh38
NC_000005.9:g.37048604G>A , CM000667.1:g.37048604G>A GRCh37
NC_000005.8:g.37084361G>A NCBI36
NG_006987.1:g.176620G>A
NG_006987.2:g.176620G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.6590G>A MANE Select ENSP00000282516.8:p.Gly2197Glu
ENST00000652901.1:c.6590G>A ENSP00000499536.1:p.Gly2197Glu
ENST00000282516.12:c.6590G>A ENSP00000282516.8:p.Gly2197Glu
ENST00000448238.2:c.6590G>A ENSP00000406266.2:p.Gly2197Glu
ENST00000621733.1:c.1-16076G>A ENSP00000480694.1:n.1-16076G>A
NM_015384.4:c.6590G>A NP_056199.2:p.Gly2197Glu
NM_133433.3:c.6590G>A NP_597677.2:p.Gly2197Glu
XM_005248280.2:c.6590G>A XP_005248337.1:p.Gly2197Glu
XM_005248282.3:c.5846G>A XP_005248339.2:p.Gly1949Glu
XM_006714467.2:c.6590G>A XP_006714530.1:p.Gly2197Glu
XM_006714468.1:c.6392G>A XP_006714531.1:p.Gly2131Glu
XM_011514014.1:c.6209G>A XP_011512316.1:p.Gly2070Glu
XM_011514015.1:c.6590G>A XP_011512317.1:p.Gly2197Glu
XM_005248280.3:c.6590G>A XP_005248337.1:p.Gly2197Glu
XM_005248282.5:c.5930G>A XP_005248339.3:p.Gly1977Glu
XM_006714468.2:c.6392G>A XP_006714531.1:p.Gly2131Glu
XM_017009329.1:c.6590G>A XP_016864818.1:p.Gly2197Glu
XM_017009330.2:c.4973G>A XP_016864819.1:p.Gly1658Glu
XM_017009331.1:c.4964G>A XP_016864820.1:p.Gly1655Glu
NM_133433.4:c.6590G>A MANE Select NP_597677.2:p.Gly2197Glu
NM_015384.5:c.6590G>A NP_056199.2:p.Gly2197Glu
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