Canonical Allele Identifier: CA359504089

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 907631
• ClinVar RCV Id: RCV001157614
• dbSNP Id: rs369295272
• MyVariant Identifiers: chr5:g.37045570A>T (hg19) ; chr5:g.37045468A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045468A>T , CM000667.2:g.37045468A>T	GRCh38
NC_000005.9:g.37045570A>T , CM000667.1:g.37045570A>T	GRCh37
NC_000005.8:g.37081327A>T	NCBI36
NG_006987.1:g.173586A>T
NG_006987.2:g.173586A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6369A>T MANE Select	ENSP00000282516.8:p.Gln2123His
ENST00000652901.1:c.6369A>T	ENSP00000499536.1:p.Gln2123His
ENST00000282516.12:c.6369A>T	ENSP00000282516.8:p.Gln2123His
ENST00000448238.2:c.6369A>T	ENSP00000406266.2:p.Gln2123His
ENST00000621733.1:c.1-19110A>T	ENSP00000480694.1:n.1-19110A>T
NM_015384.4:c.6369A>T	NP_056199.2:p.Gln2123His
NM_133433.3:c.6369A>T	NP_597677.2:p.Gln2123His
XM_005248280.2:c.6369A>T	XP_005248337.1:p.Gln2123His
XM_005248282.3:c.5625A>T	XP_005248339.2:p.Gln1875His
XM_006714467.2:c.6369A>T	XP_006714530.1:p.Gln2123His
XM_006714468.1:c.6171A>T	XP_006714531.1:p.Gln2057His
XM_011514014.1:c.5988A>T	XP_011512316.1:p.Gln1996His
XM_011514015.1:c.6369A>T	XP_011512317.1:p.Gln2123His
XM_005248280.3:c.6369A>T	XP_005248337.1:p.Gln2123His
XM_005248282.5:c.5709A>T	XP_005248339.3:p.Gln1903His
XM_006714468.2:c.6171A>T	XP_006714531.1:p.Gln2057His
XM_017009329.1:c.6369A>T	XP_016864818.1:p.Gln2123His
XM_017009330.2:c.4752A>T	XP_016864819.1:p.Gln1584His
XM_017009331.1:c.4743A>T	XP_016864820.1:p.Gln1581His
NM_133433.4:c.6369A>T MANE Select	NP_597677.2:p.Gln2123His
NM_015384.5:c.6369A>T	NP_056199.2:p.Gln2123His