Canonical Allele Identifier: CA359488526

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 3024313
• ClinVar RCV Id: RCV003883359
• MyVariant Identifiers: chr5:g.37020978A>G (hg19) ; chr5:g.37020876A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020876A>G , CM000667.2:g.37020876A>G	GRCh38
NC_000005.9:g.37020978A>G , CM000667.1:g.37020978A>G	GRCh37
NC_000005.8:g.37056735A>G	NCBI36
NG_006987.1:g.148994A>G
NG_006987.2:g.148994A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5327A>G MANE Select	ENSP00000282516.8:p.Gln1776Arg
ENST00000652901.1:c.5327A>G	ENSP00000499536.1:p.Gln1776Arg
ENST00000282516.12:c.5327A>G	ENSP00000282516.8:p.Gln1776Arg
ENST00000448238.2:c.5327A>G	ENSP00000406266.2:p.Gln1776Arg
ENST00000621733.1:c.1-43702A>G	ENSP00000480694.1:n.1-43702A>G
NM_015384.4:c.5327A>G	NP_056199.2:p.Gln1776Arg
NM_133433.3:c.5327A>G	NP_597677.2:p.Gln1776Arg
XM_005248280.2:c.5327A>G	XP_005248337.1:p.Gln1776Arg
XM_005248282.3:c.4583A>G	XP_005248339.2:p.Gln1528Arg
XM_006714467.2:c.5327A>G	XP_006714530.1:p.Gln1776Arg
XM_006714468.1:c.5129A>G	XP_006714531.1:p.Gln1710Arg
XM_011514014.1:c.4946A>G	XP_011512316.1:p.Gln1649Arg
XM_011514015.1:c.5327A>G	XP_011512317.1:p.Gln1776Arg
XM_005248280.3:c.5327A>G	XP_005248337.1:p.Gln1776Arg
XM_005248282.5:c.4667A>G	XP_005248339.3:p.Gln1556Arg
XM_006714468.2:c.5129A>G	XP_006714531.1:p.Gln1710Arg
XM_017009329.1:c.5327A>G	XP_016864818.1:p.Gln1776Arg
XM_017009330.2:c.3710A>G	XP_016864819.1:p.Gln1237Arg
XM_017009331.1:c.3701A>G	XP_016864820.1:p.Gln1234Arg
NM_133433.4:c.5327A>G MANE Select	NP_597677.2:p.Gln1776Arg
NM_015384.5:c.5327A>G	NP_056199.2:p.Gln1776Arg