Canonical Allele Identifier: CA359486601
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs1234205157
gnomAD v3: 5-37020522-A-G
gnomAD v4: 5-37020522-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37020522A>G , CM000667.2:g.37020522A>G GRCh38
NC_000005.9:g.37020624A>G , CM000667.1:g.37020624A>G GRCh37
NC_000005.8:g.37056381A>G NCBI36
NG_006987.1:g.148640A>G
NG_006987.2:g.148640A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.5074A>G MANE Select ENSP00000282516.8:p.Met1692Val
ENST00000652901.1:c.5074A>G ENSP00000499536.1:p.Met1692Val
ENST00000282516.12:c.5074A>G ENSP00000282516.8:p.Met1692Val
ENST00000448238.2:c.5074A>G ENSP00000406266.2:p.Met1692Val
ENST00000621733.1:c.1-44056A>G ENSP00000480694.1:n.1-44056A>G
NM_015384.4:c.5074A>G NP_056199.2:p.Met1692Val
NM_133433.3:c.5074A>G NP_597677.2:p.Met1692Val
XM_005248280.2:c.5074A>G XP_005248337.1:p.Met1692Val
XM_005248282.3:c.4330A>G XP_005248339.2:p.Met1444Val
XM_006714467.2:c.5074A>G XP_006714530.1:p.Met1692Val
XM_006714468.1:c.4876A>G XP_006714531.1:p.Met1626Val
XM_011514014.1:c.4693A>G XP_011512316.1:p.Met1565Val
XM_011514015.1:c.5074A>G XP_011512317.1:p.Met1692Val
XM_005248280.3:c.5074A>G XP_005248337.1:p.Met1692Val
XM_005248282.5:c.4414A>G XP_005248339.3:p.Met1472Val
XM_006714468.2:c.4876A>G XP_006714531.1:p.Met1626Val
XM_017009329.1:c.5074A>G XP_016864818.1:p.Met1692Val
XM_017009330.2:c.3457A>G XP_016864819.1:p.Met1153Val
XM_017009331.1:c.3448A>G XP_016864820.1:p.Met1150Val
NM_133433.4:c.5074A>G MANE Select NP_597677.2:p.Met1692Val
NM_015384.5:c.5074A>G NP_056199.2:p.Met1692Val