Canonical Allele Identifier: CA359474772
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs1741184454
gnomAD v3: 5-36958120-C-T
gnomAD v4: 5-36958120-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36958120C>T , CM000667.2:g.36958120C>T GRCh38
NC_000005.9:g.36958222C>T , CM000667.1:g.36958222C>T GRCh37
NC_000005.8:g.36993979C>T NCBI36
NG_006987.1:g.86238C>T
NG_006987.2:g.86238C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.247C>T MANE Select ENSP00000282516.8:p.Leu83Phe
ENST00000652901.1:c.247C>T ENSP00000499536.1:p.Leu83Phe
ENST00000282516.12:c.247C>T ENSP00000282516.8:p.Leu83Phe
ENST00000448238.2:c.247C>T ENSP00000406266.2:p.Leu83Phe
ENST00000505998.5:n.226C>T
ENST00000621733.1:c.-1+81098C>T ENSP00000480694.1:n.-1+81098C>T
NM_015384.4:c.247C>T NP_056199.2:p.Leu83Phe
NM_133433.3:c.247C>T NP_597677.2:p.Leu83Phe
XM_005248280.2:c.247C>T XP_005248337.1:p.Leu83Phe
XM_006714467.2:c.247C>T XP_006714530.1:p.Leu83Phe
XM_006714468.1:c.247C>T XP_006714531.1:p.Leu83Phe
XM_011514014.1:c.247C>T XP_011512316.1:p.Leu83Phe
XM_011514015.1:c.247C>T XP_011512317.1:p.Leu83Phe
XM_005248280.3:c.247C>T XP_005248337.1:p.Leu83Phe
XM_006714468.2:c.247C>T XP_006714531.1:p.Leu83Phe
XM_017009329.1:c.247C>T XP_016864818.1:p.Leu83Phe
XM_017009331.1:c.247C>T XP_016864820.1:p.Leu83Phe
NM_133433.4:c.247C>T MANE Select NP_597677.2:p.Leu83Phe
NM_015384.5:c.247C>T NP_056199.2:p.Leu83Phe