Canonical Allele Identifier: CA359513276
Gene: NIPBL HGNC NCBI

Linked Data

dbSNP Id: rs1419814060
gnomAD v2: 5-36995727-G-A
gnomAD v4: 5-36995625-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36995625G>A , CM000667.2:g.36995625G>A GRCh38
NC_000005.9:g.36995727G>A , CM000667.1:g.36995727G>A GRCh37
NC_000005.8:g.37031484G>A NCBI36
NG_006987.1:g.123743G>A
NG_006987.2:g.123743G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.3125G>A MANE Select ENSP00000282516.8:p.Ser1042Asn
ENST00000652901.1:c.3125G>A ENSP00000499536.1:p.Ser1042Asn
ENST00000282516.12:c.3125G>A ENSP00000282516.8:p.Ser1042Asn
ENST00000448238.2:c.3125G>A ENSP00000406266.2:p.Ser1042Asn
ENST00000503274.1:n.476G>A
ENST00000504430.5:n.2745G>A
ENST00000621733.1:c.1-68953G>A ENSP00000480694.1:n.1-68953G>A
NM_015384.4:c.3125G>A NP_056199.2:p.Ser1042Asn
NM_133433.3:c.3125G>A NP_597677.2:p.Ser1042Asn
XM_005248280.2:c.3125G>A XP_005248337.1:p.Ser1042Asn
XM_005248282.3:c.2381G>A XP_005248339.2:p.Ser794Asn
XM_006714467.2:c.3125G>A XP_006714530.1:p.Ser1042Asn
XM_006714468.1:c.3125G>A XP_006714531.1:p.Ser1042Asn
XM_011514014.1:c.3122-5192G>A XP_011512316.1:n.3122-5192G>A
XM_011514015.1:c.3125G>A XP_011512317.1:p.Ser1042Asn
XM_005248280.3:c.3125G>A XP_005248337.1:p.Ser1042Asn
XM_005248282.5:c.2465G>A XP_005248339.3:p.Ser822Asn
XM_006714468.2:c.3125G>A XP_006714531.1:p.Ser1042Asn
XM_017009329.1:c.3125G>A XP_016864818.1:p.Ser1042Asn
XM_017009330.2:c.1508G>A XP_016864819.1:p.Ser503Asn
XM_017009331.1:c.1499G>A XP_016864820.1:p.Ser500Asn
NM_133433.4:c.3125G>A MANE Select NP_597677.2:p.Ser1042Asn
NM_015384.5:c.3125G>A NP_056199.2:p.Ser1042Asn