Canonical Allele Identifier: CA359494262

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 982882
• ClinVar RCV Id: RCV001262607
• dbSNP Id: rs1744567400
• MyVariant Identifiers: chr5:g.36984999T>C (hg19) ; chr5:g.36984897T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36984897T>C , CM000667.2:g.36984897T>C	GRCh38
NC_000005.9:g.36984999T>C , CM000667.1:g.36984999T>C	GRCh37
NC_000005.8:g.37020756T>C	NCBI36
NG_006987.1:g.113015T>C
NG_006987.2:g.113015T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.1717T>C MANE Select	ENSP00000282516.8:p.Cys573Arg
ENST00000652901.1:c.1717T>C	ENSP00000499536.1:p.Cys573Arg
ENST00000282516.12:c.1717T>C	ENSP00000282516.8:p.Cys573Arg
ENST00000448238.2:c.1717T>C	ENSP00000406266.2:p.Cys573Arg
ENST00000504430.5:n.1337T>C
ENST00000621733.1:c.1-79681T>C	ENSP00000480694.1:n.1-79681T>C
NM_015384.4:c.1717T>C	NP_056199.2:p.Cys573Arg
NM_133433.3:c.1717T>C	NP_597677.2:p.Cys573Arg
XM_005248280.2:c.1717T>C	XP_005248337.1:p.Cys573Arg
XM_005248282.3:c.973T>C	XP_005248339.2:p.Cys325Arg
XM_006714467.2:c.1717T>C	XP_006714530.1:p.Cys573Arg
XM_006714468.1:c.1717T>C	XP_006714531.1:p.Cys573Arg
XM_011514014.1:c.1717T>C	XP_011512316.1:p.Cys573Arg
XM_011514015.1:c.1717T>C	XP_011512317.1:p.Cys573Arg
XM_005248280.3:c.1717T>C	XP_005248337.1:p.Cys573Arg
XM_005248282.5:c.1057T>C	XP_005248339.3:p.Cys353Arg
XM_006714468.2:c.1717T>C	XP_006714531.1:p.Cys573Arg
XM_017009329.1:c.1717T>C	XP_016864818.1:p.Cys573Arg
XM_017009330.2:c.100T>C	XP_016864819.1:p.Cys34Arg
XM_017009331.1:c.1495+8495T>C	XP_016864820.1:n.1495+8495T>C
NM_133433.4:c.1717T>C MANE Select	NP_597677.2:p.Cys573Arg
NM_015384.5:c.1717T>C	NP_056199.2:p.Cys573Arg