Canonical Allele Identifier: CA359523911
Gene: NIPBL HGNC NCBI
CPLANE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37064875G>C , CM000667.2:g.37064875G>C GRCh38
NC_000005.9:g.37064977G>C , CM000667.1:g.37064977G>C GRCh37
NC_000005.8:g.37100734G>C NCBI36
NG_006987.1:g.192993G>C
NG_006987.2:g.192993G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.8398G>C (NIPBL) MANE Select ENSP00000282516.8:p.Asp2800His
ENST00000652901.1:c.*342G>C (NIPBL) ENSP00000499536.1:n.*342G>C
ENST00000282516.12:c.8398G>C (NIPBL) ENSP00000282516.8:p.Asp2800His
ENST00000514335.1:n.2321G>C (NIPBL)
ENST00000621733.1:c.298G>C (NIPBL) ENSP00000480694.1:p.Asp100His
NM_015384.4:c.*852G>C (NIPBL) NP_056199.2:n.*852G>C
NM_133433.3:c.8398G>C (NIPBL) NP_597677.2:p.Asp2800His
XM_005248280.2:c.*342G>C (NIPBL) XP_005248337.1:n.*342G>C
XM_005248282.3:c.7654G>C (NIPBL) XP_005248339.2:p.Asp2552His
XM_006714467.2:c.8251G>C (NIPBL) XP_006714530.1:p.Asp2751His
XM_006714468.1:c.8200G>C (NIPBL) XP_006714531.1:p.Asp2734His
XM_011514014.1:c.8017G>C (NIPBL) XP_011512316.1:p.Asp2673His
XM_005248280.3:c.*342G>C (NIPBL) XP_005248337.1:n.*342G>C
XM_005248282.5:c.7738G>C (NIPBL) XP_005248339.3:p.Asp2580His
XM_006714468.2:c.8200G>C (NIPBL) XP_006714531.1:p.Asp2734His
XM_017009329.1:c.*342G>C (NIPBL) XP_016864818.1:n.*342G>C
XM_017009330.2:c.6781G>C (NIPBL) XP_016864819.1:p.Asp2261His
XM_017009331.1:c.6772G>C (NIPBL) XP_016864820.1:p.Asp2258His
XR_925644.2:n.11807C>G (CPLANE1)
NM_133433.4:c.8398G>C (NIPBL) MANE Select NP_597677.2:p.Asp2800His
NM_015384.5:c.*852G>C (NIPBL) NP_056199.2:n.*852G>C