Canonical Allele Identifier: CA3236114

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 1031110
• ClinVar RCV Id: RCV001332856
• dbSNP Id: rs762097133
• ExAC: 5:36985317 T / A
• gnomAD v2: 5-36985317-T-A
• gnomAD v4: 5-36985215-T-A
• COSMIC: COSM3855009 ; COSM3855010
• MyVariant Identifiers: chr5:g.36985317T>A (hg19) ; chr5:g.36985215T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985215T>A , CM000667.2:g.36985215T>A	GRCh38
NC_000005.9:g.36985317T>A , CM000667.1:g.36985317T>A	GRCh37
NC_000005.8:g.37021074T>A	NCBI36
NG_006987.1:g.113333T>A
NG_006987.2:g.113333T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.2035T>A MANE Select	ENSP00000282516.8:p.Ser679Thr
ENST00000652901.1:c.2035T>A	ENSP00000499536.1:p.Ser679Thr
ENST00000282516.12:c.2035T>A	ENSP00000282516.8:p.Ser679Thr
ENST00000448238.2:c.2035T>A	ENSP00000406266.2:p.Ser679Thr
ENST00000504430.5:n.1655T>A
ENST00000621733.1:c.1-79363T>A	ENSP00000480694.1:n.1-79363T>A
NM_015384.4:c.2035T>A	NP_056199.2:p.Ser679Thr
NM_133433.3:c.2035T>A	NP_597677.2:p.Ser679Thr
XM_005248280.2:c.2035T>A	XP_005248337.1:p.Ser679Thr
XM_005248282.3:c.1291T>A	XP_005248339.2:p.Ser431Thr
XM_006714467.2:c.2035T>A	XP_006714530.1:p.Ser679Thr
XM_006714468.1:c.2035T>A	XP_006714531.1:p.Ser679Thr
XM_011514014.1:c.2035T>A	XP_011512316.1:p.Ser679Thr
XM_011514015.1:c.2035T>A	XP_011512317.1:p.Ser679Thr
XM_005248280.3:c.2035T>A	XP_005248337.1:p.Ser679Thr
XM_005248282.5:c.1375T>A	XP_005248339.3:p.Ser459Thr
XM_006714468.2:c.2035T>A	XP_006714531.1:p.Ser679Thr
XM_017009329.1:c.2035T>A	XP_016864818.1:p.Ser679Thr
XM_017009330.2:c.418T>A	XP_016864819.1:p.Ser140Thr
XM_017009331.1:c.1495+8813T>A	XP_016864820.1:n.1495+8813T>A
NM_133433.4:c.2035T>A MANE Select	NP_597677.2:p.Ser679Thr
NM_015384.5:c.2035T>A	NP_056199.2:p.Ser679Thr