Canonical Allele Identifier: CA443904225

Gene: NIPBL

Linked Data

• dbSNP Id: rs1335669297
• gnomAD v2: 5-37000518-A-G
• gnomAD v4: 5-37000416-A-G
• MyVariant Identifiers: chr5:g.37000518A>G (hg19) ; chr5:g.37000416A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37000416A>G , CM000667.2:g.37000416A>G	GRCh38
NC_000005.9:g.37000518A>G , CM000667.1:g.37000518A>G	GRCh37
NC_000005.8:g.37036275A>G	NCBI36
NG_006987.1:g.128534A>G
NG_006987.2:g.128534A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3348A>G MANE Select	ENSP00000282516.8:p.Glu1116=
ENST00000652901.1:c.3348A>G	ENSP00000499536.1:p.Glu1116=
ENST00000282516.12:c.3348A>G	ENSP00000282516.8:p.Glu1116=
ENST00000448238.2:c.3348A>G	ENSP00000406266.2:p.Glu1116=
ENST00000503274.1:n.699A>G
ENST00000621733.1:c.1-64162A>G	ENSP00000480694.1:n.1-64162A>G
NM_015384.4:c.3348A>G	NP_056199.2:p.Glu1116=
NM_133433.3:c.3348A>G	NP_597677.2:p.Glu1116=
XM_005248280.2:c.3348A>G	XP_005248337.1:p.Glu1116=
XM_005248282.3:c.2604A>G	XP_005248339.2:p.Glu868=
XM_006714467.2:c.3348A>G	XP_006714530.1:p.Glu1116=
XM_006714468.1:c.3305-401A>G	XP_006714531.1:n.3305-401A>G
XM_011514014.1:c.3122-401A>G	XP_011512316.1:n.3122-401A>G
XM_011514015.1:c.3348A>G	XP_011512317.1:p.Glu1116=
XM_005248280.3:c.3348A>G	XP_005248337.1:p.Glu1116=
XM_005248282.5:c.2688A>G	XP_005248339.3:p.Glu896=
XM_006714468.2:c.3305-401A>G	XP_006714531.1:n.3305-401A>G
XM_017009329.1:c.3348A>G	XP_016864818.1:p.Glu1116=
XM_017009330.2:c.1731A>G	XP_016864819.1:p.Glu577=
XM_017009331.1:c.1722A>G	XP_016864820.1:p.Glu574=
NM_133433.4:c.3348A>G MANE Select	NP_597677.2:p.Glu1116=
NM_015384.5:c.3348A>G	NP_056199.2:p.Glu1116=