Canonical Allele Identifier: CA333583

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 180194
• ClinVar RCV Id: RCV000157046
• dbSNP Id: rs727503770
• gnomAD v4: 5-36975821-C-A
• MyVariant Identifiers: chr5:g.36975923C>A (hg19) ; chr5:g.36975821C>A (hg38)
• PubMed: PMID:25574841

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36975821C>A , CM000667.2:g.36975821C>A	GRCh38
NC_000005.9:g.36975923C>A , CM000667.1:g.36975923C>A	GRCh37
NC_000005.8:g.37011680C>A	NCBI36
NG_006987.1:g.103939C>A
NG_006987.2:g.103939C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.914C>A MANE Select	ENSP00000282516.8:p.Ser305Ter
ENST00000652901.1:c.914C>A	ENSP00000499536.1:p.Ser305Ter
ENST00000282516.12:c.914C>A	ENSP00000282516.8:p.Ser305Ter
ENST00000448238.2:c.914C>A	ENSP00000406266.2:p.Ser305Ter
ENST00000504430.5:n.534C>A
ENST00000505998.5:n.893C>A
ENST00000621733.1:c.1-88757C>A	ENSP00000480694.1:n.1-88757C>A
NM_015384.4:c.914C>A	NP_056199.2:p.Ser305Ter
NM_133433.3:c.914C>A	NP_597677.2:p.Ser305Ter
XM_005248280.2:c.914C>A	XP_005248337.1:p.Ser305Ter
XM_005248282.3:c.170C>A	XP_005248339.2:p.Ser57Ter
XM_006714467.2:c.914C>A	XP_006714530.1:p.Ser305Ter
XM_006714468.1:c.914C>A	XP_006714531.1:p.Ser305Ter
XM_011514014.1:c.914C>A	XP_011512316.1:p.Ser305Ter
XM_011514015.1:c.914C>A	XP_011512317.1:p.Ser305Ter
XM_005248280.3:c.914C>A	XP_005248337.1:p.Ser305Ter
XM_005248282.5:c.254C>A	XP_005248339.3:p.Ser85Ter
XM_006714468.2:c.914C>A	XP_006714531.1:p.Ser305Ter
XM_017009329.1:c.914C>A	XP_016864818.1:p.Ser305Ter
XM_017009331.1:c.914C>A	XP_016864820.1:p.Ser305Ter
NM_133433.4:c.914C>A MANE Select	NP_597677.2:p.Ser305Ter
NM_015384.5:c.914C>A	NP_056199.2:p.Ser305Ter