Canonical Allele Identifier: CA3236022
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs781150294
gnomAD v2: 5-36976406-A-G
gnomAD v4: 5-36976304-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36976304A>G , CM000667.2:g.36976304A>G GRCh38
NC_000005.9:g.36976406A>G , CM000667.1:g.36976406A>G GRCh37
NC_000005.8:g.37012163A>G NCBI36
NG_006987.1:g.104422A>G
NG_006987.2:g.104422A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.1397A>G MANE Select ENSP00000282516.8:p.Tyr466Cys
ENST00000652901.1:c.1397A>G ENSP00000499536.1:p.Tyr466Cys
ENST00000282516.12:c.1397A>G ENSP00000282516.8:p.Tyr466Cys
ENST00000448238.2:c.1397A>G ENSP00000406266.2:p.Tyr466Cys
ENST00000504430.5:n.1017A>G
ENST00000621733.1:c.1-88274A>G ENSP00000480694.1:n.1-88274A>G
NM_015384.4:c.1397A>G NP_056199.2:p.Tyr466Cys
NM_133433.3:c.1397A>G NP_597677.2:p.Tyr466Cys
XM_005248280.2:c.1397A>G XP_005248337.1:p.Tyr466Cys
XM_005248282.3:c.653A>G XP_005248339.2:p.Tyr218Cys
XM_006714467.2:c.1397A>G XP_006714530.1:p.Tyr466Cys
XM_006714468.1:c.1397A>G XP_006714531.1:p.Tyr466Cys
XM_011514014.1:c.1397A>G XP_011512316.1:p.Tyr466Cys
XM_011514015.1:c.1397A>G XP_011512317.1:p.Tyr466Cys
XM_005248280.3:c.1397A>G XP_005248337.1:p.Tyr466Cys
XM_005248282.5:c.737A>G XP_005248339.3:p.Tyr246Cys
XM_006714468.2:c.1397A>G XP_006714531.1:p.Tyr466Cys
XM_017009329.1:c.1397A>G XP_016864818.1:p.Tyr466Cys
XM_017009331.1:c.1397A>G XP_016864820.1:p.Tyr466Cys
NM_133433.4:c.1397A>G MANE Select NP_597677.2:p.Tyr466Cys
NM_015384.5:c.1397A>G NP_056199.2:p.Tyr466Cys