Canonical Allele Identifier: CA16042619
Gene: NIPBL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372945
ClinVar RCV Id: RCV000414501
dbSNP Id: rs1057518091

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37038743G>A , CM000667.2:g.37038743G>A GRCh38
NC_000005.9:g.37038845G>A , CM000667.1:g.37038845G>A GRCh37
NC_000005.8:g.37074602G>A NCBI36
NG_006987.1:g.166861G>A
NG_006987.2:g.166861G>A

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.6108+5G>A VV NP_056199.2:p.=
NM_133433.3:c.6108+5G>A VV NP_597677.2:p.=
XM_005248280.2:c.6108+5G>A XP_005248337.1:p.=
XM_005248282.3:c.5364+5G>A XP_005248339.2:p.=
XM_006714467.2:c.6108+5G>A XP_006714530.1:p.=
XM_006714468.1:c.5910+5G>A XP_006714531.1:p.=
XM_011514014.1:c.5727+5G>A XP_011512316.1:p.=
XM_011514015.1:c.6108+5G>A XP_011512317.1:p.=
XM_005248280.3:c.6108+5G>A
XM_005248282.5:c.5448+5G>A XP_005248339.3:p.=
XM_006714468.2:c.5910+5G>A
XM_017009329.1:c.6108+5G>A XP_016864818.1:p.=
XM_017009330.2:c.4491+5G>A XP_016864819.1:p.=
XM_017009331.1:c.4482+5G>A XP_016864820.1:p.=
NM_133433.4:c.6108+5G>A VV MANE Preferred
ENST00000282516.12:c.6108+5G>A ENSP00000282516.8:p.=
ENST00000448238.2:c.6108+5G>A ENSP00000406266.2:p.=
ENST00000621733.1:c.1-25835G>A ENSP00000480694.1:p.=