Canonical Allele Identifier: CA3237119

Gene: NIPBL

Linked Data

• dbSNP Id: rs746511205
• ExAC: 5:37051983 A / G
• gnomAD v2: 5-37051983-A-G
• gnomAD v4: 5-37051881-A-G
• MyVariant Identifiers: chr5:g.37051983A>G (hg19) ; chr5:g.37051881A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051881A>G , CM000667.2:g.37051881A>G	GRCh38
NC_000005.9:g.37051983A>G , CM000667.1:g.37051983A>G	GRCh37
NC_000005.8:g.37087740A>G	NCBI36
NG_006987.1:g.179999A>G
NG_006987.2:g.179999A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.7057A>G MANE Select	ENSP00000282516.8:p.Ile2353Val
ENST00000652901.1:c.7057A>G	ENSP00000499536.1:p.Ile2353Val
ENST00000282516.12:c.7057A>G	ENSP00000282516.8:p.Ile2353Val
ENST00000448238.2:c.7057A>G	ENSP00000406266.2:p.Ile2353Val
ENST00000514335.1:n.939A>G
ENST00000621733.1:c.1-12697A>G	ENSP00000480694.1:n.1-12697A>G
NM_015384.4:c.7057A>G	NP_056199.2:p.Ile2353Val
NM_133433.3:c.7057A>G	NP_597677.2:p.Ile2353Val
XM_005248280.2:c.7057A>G	XP_005248337.1:p.Ile2353Val
XM_005248282.3:c.6313A>G	XP_005248339.2:p.Ile2105Val
XM_006714467.2:c.7057A>G	XP_006714530.1:p.Ile2353Val
XM_006714468.1:c.6859A>G	XP_006714531.1:p.Ile2287Val
XM_011514014.1:c.6676A>G	XP_011512316.1:p.Ile2226Val
XM_011514015.1:c.7057A>G	XP_011512317.1:p.Ile2353Val
XM_005248280.3:c.7057A>G	XP_005248337.1:p.Ile2353Val
XM_005248282.5:c.6397A>G	XP_005248339.3:p.Ile2133Val
XM_006714468.2:c.6859A>G	XP_006714531.1:p.Ile2287Val
XM_017009329.1:c.7057A>G	XP_016864818.1:p.Ile2353Val
XM_017009330.2:c.5440A>G	XP_016864819.1:p.Ile1814Val
XM_017009331.1:c.5431A>G	XP_016864820.1:p.Ile1811Val
NM_133433.4:c.7057A>G MANE Select	NP_597677.2:p.Ile2353Val
NM_015384.5:c.7057A>G	NP_056199.2:p.Ile2353Val