Canonical Allele Identifier: CA359522255

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs750120861
• gnomAD v3: 5-37064614-A-G
• gnomAD v4: 5-37064614-A-G
• MyVariant Identifiers: chr5:g.37064716A>G (hg19) ; chr5:g.37064614A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064614A>G , CM000667.2:g.37064614A>G	GRCh38
NC_000005.9:g.37064716A>G , CM000667.1:g.37064716A>G	GRCh37
NC_000005.8:g.37100473A>G	NCBI36
NG_006987.1:g.192732A>G
NG_006987.2:g.192732A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8137A>G (NIPBL) MANE Select	ENSP00000282516.8:p.Ile2713Val
ENST00000652901.1:c.*81A>G (NIPBL)	ENSP00000499536.1:n.*81A>G
ENST00000282516.12:c.8137A>G (NIPBL)	ENSP00000282516.8:p.Ile2713Val
ENST00000514335.1:n.2060A>G (NIPBL)
ENST00000621733.1:c.37A>G (NIPBL)	ENSP00000480694.1:p.Ile13Val
NM_015384.4:c.*591A>G (NIPBL)	NP_056199.2:n.*591A>G
NM_133433.3:c.8137A>G (NIPBL)	NP_597677.2:p.Ile2713Val
XM_005248280.2:c.*81A>G (NIPBL)	XP_005248337.1:n.*81A>G
XM_005248282.3:c.7393A>G (NIPBL)	XP_005248339.2:p.Ile2465Val
XM_006714467.2:c.7990A>G (NIPBL)	XP_006714530.1:p.Ile2664Val
XM_006714468.1:c.7939A>G (NIPBL)	XP_006714531.1:p.Ile2647Val
XM_011514014.1:c.7756A>G (NIPBL)	XP_011512316.1:p.Ile2586Val
XM_005248280.3:c.*81A>G (NIPBL)	XP_005248337.1:n.*81A>G
XM_005248282.5:c.7477A>G (NIPBL)	XP_005248339.3:p.Ile2493Val
XM_006714468.2:c.7939A>G (NIPBL)	XP_006714531.1:p.Ile2647Val
XM_017009329.1:c.*81A>G (NIPBL)	XP_016864818.1:n.*81A>G
XM_017009330.2:c.6520A>G (NIPBL)	XP_016864819.1:p.Ile2174Val
XM_017009331.1:c.6511A>G (NIPBL)	XP_016864820.1:p.Ile2171Val
XR_925644.2:n.12068T>C (CPLANE1)
NM_133433.4:c.8137A>G (NIPBL) MANE Select	NP_597677.2:p.Ile2713Val
NM_015384.5:c.*591A>G (NIPBL)	NP_056199.2:n.*591A>G