Canonical Allele Identifier: CA359504582

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 3235919
• ClinVar RCV Id: RCV004555180
• MyVariant Identifiers: chr5:g.37045641T>G (hg19) ; chr5:g.37045539T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045539T>G , CM000667.2:g.37045539T>G	GRCh38
NC_000005.9:g.37045641T>G , CM000667.1:g.37045641T>G	GRCh37
NC_000005.8:g.37081398T>G	NCBI36
NG_006987.1:g.173657T>G
NG_006987.2:g.173657T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6440T>G MANE Select	ENSP00000282516.8:p.Val2147Gly
ENST00000652901.1:c.6440T>G	ENSP00000499536.1:p.Val2147Gly
ENST00000282516.12:c.6440T>G	ENSP00000282516.8:p.Val2147Gly
ENST00000448238.2:c.6440T>G	ENSP00000406266.2:p.Val2147Gly
ENST00000621733.1:c.1-19039T>G	ENSP00000480694.1:n.1-19039T>G
NM_015384.4:c.6440T>G	NP_056199.2:p.Val2147Gly
NM_133433.3:c.6440T>G	NP_597677.2:p.Val2147Gly
XM_005248280.2:c.6440T>G	XP_005248337.1:p.Val2147Gly
XM_005248282.3:c.5696T>G	XP_005248339.2:p.Val1899Gly
XM_006714467.2:c.6440T>G	XP_006714530.1:p.Val2147Gly
XM_006714468.1:c.6242T>G	XP_006714531.1:p.Val2081Gly
XM_011514014.1:c.6059T>G	XP_011512316.1:p.Val2020Gly
XM_011514015.1:c.6440T>G	XP_011512317.1:p.Val2147Gly
XM_005248280.3:c.6440T>G	XP_005248337.1:p.Val2147Gly
XM_005248282.5:c.5780T>G	XP_005248339.3:p.Val1927Gly
XM_006714468.2:c.6242T>G	XP_006714531.1:p.Val2081Gly
XM_017009329.1:c.6440T>G	XP_016864818.1:p.Val2147Gly
XM_017009330.2:c.4823T>G	XP_016864819.1:p.Val1608Gly
XM_017009331.1:c.4814T>G	XP_016864820.1:p.Val1605Gly
NM_133433.4:c.6440T>G MANE Select	NP_597677.2:p.Val2147Gly
NM_015384.5:c.6440T>G	NP_056199.2:p.Val2147Gly