Canonical Allele Identifier: CA117045066
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs142517671
gnomAD v4: 5-36985959-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36985959A>G , CM000667.2:g.36985959A>G GRCh38
NC_000005.9:g.36986061A>G , CM000667.1:g.36986061A>G GRCh37
NC_000005.8:g.37021818A>G NCBI36
NG_006987.1:g.114077A>G
NG_006987.2:g.114077A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.2779A>G MANE Select ENSP00000282516.8:p.Lys927Glu
ENST00000652901.1:c.2779A>G ENSP00000499536.1:p.Lys927Glu
ENST00000282516.12:c.2779A>G ENSP00000282516.8:p.Lys927Glu
ENST00000448238.2:c.2779A>G ENSP00000406266.2:p.Lys927Glu
ENST00000504430.5:n.2399A>G
ENST00000621733.1:c.1-78619A>G ENSP00000480694.1:n.1-78619A>G
NM_015384.4:c.2779A>G NP_056199.2:p.Lys927Glu
NM_133433.3:c.2779A>G NP_597677.2:p.Lys927Glu
XM_005248280.2:c.2779A>G XP_005248337.1:p.Lys927Glu
XM_005248282.3:c.2035A>G XP_005248339.2:p.Lys679Glu
XM_006714467.2:c.2779A>G XP_006714530.1:p.Lys927Glu
XM_006714468.1:c.2779A>G XP_006714531.1:p.Lys927Glu
XM_011514014.1:c.2779A>G XP_011512316.1:p.Lys927Glu
XM_011514015.1:c.2779A>G XP_011512317.1:p.Lys927Glu
XM_005248280.3:c.2779A>G XP_005248337.1:p.Lys927Glu
XM_005248282.5:c.2119A>G XP_005248339.3:p.Lys707Glu
XM_006714468.2:c.2779A>G XP_006714531.1:p.Lys927Glu
XM_017009329.1:c.2779A>G XP_016864818.1:p.Lys927Glu
XM_017009330.2:c.1162A>G XP_016864819.1:p.Lys388Glu
XM_017009331.1:c.1495+9557A>G XP_016864820.1:n.1495+9557A>G
NM_133433.4:c.2779A>G MANE Select NP_597677.2:p.Lys927Glu
NM_015384.5:c.2779A>G NP_056199.2:p.Lys927Glu