Canonical Allele Identifier: CA359504920
Gene: NIPBL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37045585A>T , CM000667.2:g.37045585A>T GRCh38
NC_000005.9:g.37045687A>T , CM000667.1:g.37045687A>T GRCh37
NC_000005.8:g.37081444A>T NCBI36
NG_006987.1:g.173703A>T
NG_006987.2:g.173703A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.6486A>T MANE Select ENSP00000282516.8:p.Lys2162Asn
ENST00000652901.1:c.6486A>T ENSP00000499536.1:p.Lys2162Asn
ENST00000282516.12:c.6486A>T ENSP00000282516.8:p.Lys2162Asn
ENST00000448238.2:c.6486A>T ENSP00000406266.2:p.Lys2162Asn
ENST00000621733.1:c.1-18993A>T ENSP00000480694.1:n.1-18993A>T
NM_015384.4:c.6486A>T NP_056199.2:p.Lys2162Asn
NM_133433.3:c.6486A>T NP_597677.2:p.Lys2162Asn
XM_005248280.2:c.6486A>T XP_005248337.1:p.Lys2162Asn
XM_005248282.3:c.5742A>T XP_005248339.2:p.Lys1914Asn
XM_006714467.2:c.6486A>T XP_006714530.1:p.Lys2162Asn
XM_006714468.1:c.6288A>T XP_006714531.1:p.Lys2096Asn
XM_011514014.1:c.6105A>T XP_011512316.1:p.Lys2035Asn
XM_011514015.1:c.6486A>T XP_011512317.1:p.Lys2162Asn
XM_005248280.3:c.6486A>T XP_005248337.1:p.Lys2162Asn
XM_005248282.5:c.5826A>T XP_005248339.3:p.Lys1942Asn
XM_006714468.2:c.6288A>T XP_006714531.1:p.Lys2096Asn
XM_017009329.1:c.6486A>T XP_016864818.1:p.Lys2162Asn
XM_017009330.2:c.4869A>T XP_016864819.1:p.Lys1623Asn
XM_017009331.1:c.4860A>T XP_016864820.1:p.Lys1620Asn
NM_133433.4:c.6486A>T MANE Select NP_597677.2:p.Lys2162Asn
NM_015384.5:c.6486A>T NP_056199.2:p.Lys2162Asn