Canonical Allele Identifier: CA359486578
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs1433718155
gnomAD v2: 5-37020621-G-A
gnomAD v4: 5-37020519-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37020519G>A , CM000667.2:g.37020519G>A GRCh38
NC_000005.9:g.37020621G>A , CM000667.1:g.37020621G>A GRCh37
NC_000005.8:g.37056378G>A NCBI36
NG_006987.1:g.148637G>A
NG_006987.2:g.148637G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.5071G>A MANE Select ENSP00000282516.8:p.Ala1691Thr
ENST00000652901.1:c.5071G>A ENSP00000499536.1:p.Ala1691Thr
ENST00000282516.12:c.5071G>A ENSP00000282516.8:p.Ala1691Thr
ENST00000448238.2:c.5071G>A ENSP00000406266.2:p.Ala1691Thr
ENST00000621733.1:c.1-44059G>A ENSP00000480694.1:n.1-44059G>A
NM_015384.4:c.5071G>A NP_056199.2:p.Ala1691Thr
NM_133433.3:c.5071G>A NP_597677.2:p.Ala1691Thr
XM_005248280.2:c.5071G>A XP_005248337.1:p.Ala1691Thr
XM_005248282.3:c.4327G>A XP_005248339.2:p.Ala1443Thr
XM_006714467.2:c.5071G>A XP_006714530.1:p.Ala1691Thr
XM_006714468.1:c.4873G>A XP_006714531.1:p.Ala1625Thr
XM_011514014.1:c.4690G>A XP_011512316.1:p.Ala1564Thr
XM_011514015.1:c.5071G>A XP_011512317.1:p.Ala1691Thr
XM_005248280.3:c.5071G>A XP_005248337.1:p.Ala1691Thr
XM_005248282.5:c.4411G>A XP_005248339.3:p.Ala1471Thr
XM_006714468.2:c.4873G>A XP_006714531.1:p.Ala1625Thr
XM_017009329.1:c.5071G>A XP_016864818.1:p.Ala1691Thr
XM_017009330.2:c.3454G>A XP_016864819.1:p.Ala1152Thr
XM_017009331.1:c.3445G>A XP_016864820.1:p.Ala1149Thr
NM_133433.4:c.5071G>A MANE Select NP_597677.2:p.Ala1691Thr
NM_015384.5:c.5071G>A NP_056199.2:p.Ala1691Thr