Canonical Allele Identifier: CA252125
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2150
ClinVar RCV Id: RCV000002232
dbSNP Id: rs121918269
gnomAD v4: 5-37014728-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37014728C>T , CM000667.2:g.37014728C>T GRCh38
NC_000005.9:g.37014830C>T , CM000667.1:g.37014830C>T GRCh37
NC_000005.8:g.37050587C>T NCBI36
NG_006987.1:g.142846C>T
NG_006987.2:g.142846C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.4606C>T MANE Select ENSP00000282516.8:p.Arg1536Ter
ENST00000652901.1:c.4606C>T ENSP00000499536.1:p.Arg1536Ter
ENST00000282516.12:c.4606C>T ENSP00000282516.8:p.Arg1536Ter
ENST00000448238.2:c.4606C>T ENSP00000406266.2:p.Arg1536Ter
ENST00000621733.1:c.1-49850C>T ENSP00000480694.1:n.1-49850C>T
NM_015384.4:c.4606C>T NP_056199.2:p.Arg1536Ter
NM_133433.3:c.4606C>T NP_597677.2:p.Arg1536Ter
XM_005248280.2:c.4606C>T XP_005248337.1:p.Arg1536Ter
XM_005248282.3:c.3862C>T XP_005248339.2:p.Arg1288Ter
XM_006714467.2:c.4606C>T XP_006714530.1:p.Arg1536Ter
XM_006714468.1:c.4408C>T XP_006714531.1:p.Arg1470Ter
XM_011514014.1:c.4225C>T XP_011512316.1:p.Arg1409Ter
XM_011514015.1:c.4606C>T XP_011512317.1:p.Arg1536Ter
XM_005248280.3:c.4606C>T XP_005248337.1:p.Arg1536Ter
XM_005248282.5:c.3946C>T XP_005248339.3:p.Arg1316Ter
XM_006714468.2:c.4408C>T XP_006714531.1:p.Arg1470Ter
XM_017009329.1:c.4606C>T XP_016864818.1:p.Arg1536Ter
XM_017009330.2:c.2989C>T XP_016864819.1:p.Arg997Ter
XM_017009331.1:c.2980C>T XP_016864820.1:p.Arg994Ter
NM_133433.4:c.4606C>T MANE Select NP_597677.2:p.Arg1536Ter
NM_015384.5:c.4606C>T NP_056199.2:p.Arg1536Ter