Canonical Allele Identifier: CA1539537657
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876942C= , CM000667.2:g.36876942C= GRCh38
NC_000005.9:g.36877044C= , CM000667.1:g.36877044C= GRCh37
NC_000005.8:g.36912801C= NCBI36
NG_006987.1:g.5060C=
NG_006987.2:g.5060C=

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.-316C= MANE Select ENSP00000282516.8:n.-316C=
ENST00000652901.1:c.-316C= ENSP00000499536.1:n.-316C=
ENST00000282516.12:c.-316C= ENSP00000282516.8:n.-316C=
ENST00000448238.2:c.-316C= ENSP00000406266.2:n.-316C=
NM_015384.4:c.-316C= NP_056199.2:n.-316C=
NM_133433.3:c.-316C= NP_597677.2:n.-316C=
XM_005248280.2:c.-316C= XP_005248337.1:n.-316C=
XM_006714467.2:c.-316C= XP_006714530.1:n.-316C=
XM_006714468.1:c.-316C= XP_006714531.1:n.-316C=
XM_011514014.1:c.-316C= XP_011512316.1:n.-316C=
XM_011514015.1:c.-316C= XP_011512317.1:n.-316C=
XM_005248280.3:c.-316C= XP_005248337.1:n.-316C=
XM_006714468.2:c.-316C= XP_006714531.1:n.-316C=
XM_017009329.1:c.-316C= XP_016864818.1:n.-316C=
XM_017009331.1:c.-316C= XP_016864820.1:n.-316C=
NM_133433.4:c.-316C= MANE Select NP_597677.2:n.-316C=
NM_015384.5:c.-316C= NP_056199.2:n.-316C=