Canonical Allele Identifier: CA272222
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 159189
ClinVar RCV Id: RCV000146683
dbSNP Id: rs587784007
COSMIC: COSM4185570 COSM4185571
MyVariant Identifiers: chr5:g.37044831G>A (hg19) chr5:g.37044729G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37044729G>A , CM000667.2:g.37044729G>A GRCh38
NC_000005.9:g.37044831G>A , CM000667.1:g.37044831G>A GRCh37
NC_000005.8:g.37080588G>A NCBI36
NG_006987.1:g.172847G>A
NG_006987.2:g.172847G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.6343G>A MANE Select ENSP00000282516.8:p.Gly2115Ser
ENST00000652901.1:c.6343G>A ENSP00000499536.1:p.Gly2115Ser
ENST00000282516.12:c.6343G>A ENSP00000282516.8:p.Gly2115Ser
ENST00000448238.2:c.6343G>A ENSP00000406266.2:p.Gly2115Ser
ENST00000621733.1:c.1-19849G>A ENSP00000480694.1:n.1-19849G>A
NM_015384.4:c.6343G>A NP_056199.2:p.Gly2115Ser
NM_133433.3:c.6343G>A NP_597677.2:p.Gly2115Ser
XM_005248280.2:c.6343G>A XP_005248337.1:p.Gly2115Ser
XM_005248282.3:c.5599G>A XP_005248339.2:p.Gly1867Ser
XM_006714467.2:c.6343G>A XP_006714530.1:p.Gly2115Ser
XM_006714468.1:c.6145G>A XP_006714531.1:p.Gly2049Ser
XM_011514014.1:c.5962G>A XP_011512316.1:p.Gly1988Ser
XM_011514015.1:c.6343G>A XP_011512317.1:p.Gly2115Ser
XM_005248280.3:c.6343G>A XP_005248337.1:p.Gly2115Ser
XM_005248282.5:c.5683G>A XP_005248339.3:p.Gly1895Ser
XM_006714468.2:c.6145G>A XP_006714531.1:p.Gly2049Ser
XM_017009329.1:c.6343G>A XP_016864818.1:p.Gly2115Ser
XM_017009330.2:c.4726G>A XP_016864819.1:p.Gly1576Ser
XM_017009331.1:c.4717G>A XP_016864820.1:p.Gly1573Ser
NM_133433.4:c.6343G>A MANE Select NP_597677.2:p.Gly2115Ser
NM_015384.5:c.6343G>A NP_056199.2:p.Gly2115Ser
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