Canonical Allele Identifier: CA359522621
Gene: NIPBL HGNC NCBI
CPLANE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37064705C>G , CM000667.2:g.37064705C>G GRCh38
NC_000005.9:g.37064807C>G , CM000667.1:g.37064807C>G GRCh37
NC_000005.8:g.37100564C>G NCBI36
NG_006987.1:g.192823C>G
NG_006987.2:g.192823C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.8228C>G (NIPBL) MANE Select ENSP00000282516.8:p.Ser2743Cys
ENST00000652901.1:c.*172C>G (NIPBL) ENSP00000499536.1:n.*172C>G
ENST00000282516.12:c.8228C>G (NIPBL) ENSP00000282516.8:p.Ser2743Cys
ENST00000514335.1:n.2151C>G (NIPBL)
ENST00000621733.1:c.128C>G (NIPBL) ENSP00000480694.1:p.Ser43Cys
NM_015384.4:c.*682C>G (NIPBL) NP_056199.2:n.*682C>G
NM_133433.3:c.8228C>G (NIPBL) NP_597677.2:p.Ser2743Cys
XM_005248280.2:c.*172C>G (NIPBL) XP_005248337.1:n.*172C>G
XM_005248282.3:c.7484C>G (NIPBL) XP_005248339.2:p.Ser2495Cys
XM_006714467.2:c.8081C>G (NIPBL) XP_006714530.1:p.Ser2694Cys
XM_006714468.1:c.8030C>G (NIPBL) XP_006714531.1:p.Ser2677Cys
XM_011514014.1:c.7847C>G (NIPBL) XP_011512316.1:p.Ser2616Cys
XM_005248280.3:c.*172C>G (NIPBL) XP_005248337.1:n.*172C>G
XM_005248282.5:c.7568C>G (NIPBL) XP_005248339.3:p.Ser2523Cys
XM_006714468.2:c.8030C>G (NIPBL) XP_006714531.1:p.Ser2677Cys
XM_017009329.1:c.*172C>G (NIPBL) XP_016864818.1:n.*172C>G
XM_017009330.2:c.6611C>G (NIPBL) XP_016864819.1:p.Ser2204Cys
XM_017009331.1:c.6602C>G (NIPBL) XP_016864820.1:p.Ser2201Cys
XR_925644.2:n.11977G>C (CPLANE1)
NM_133433.4:c.8228C>G (NIPBL) MANE Select NP_597677.2:p.Ser2743Cys
NM_015384.5:c.*682C>G (NIPBL) NP_056199.2:n.*682C>G