Canonical Allele Identifier: CA359523714

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs1375623038
• gnomAD v4: 5-37064855-G-A
• COSMIC: COSM1328817
• MyVariant Identifiers: chr5:g.37064957G>A (hg19) ; chr5:g.37064855G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064855G>A , CM000667.2:g.37064855G>A	GRCh38
NC_000005.9:g.37064957G>A , CM000667.1:g.37064957G>A	GRCh37
NC_000005.8:g.37100714G>A	NCBI36
NG_006987.1:g.192973G>A
NG_006987.2:g.192973G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.8378G>A (NIPBL) MANE Select	ENSP00000282516.8:p.Arg2793Gln
ENST00000652901.1:c.*322G>A (NIPBL)	ENSP00000499536.1:n.*322G>A
ENST00000282516.12:c.8378G>A (NIPBL)	ENSP00000282516.8:p.Arg2793Gln
ENST00000514335.1:n.2301G>A (NIPBL)
ENST00000621733.1:c.278G>A (NIPBL)	ENSP00000480694.1:p.Arg93Gln
NM_015384.4:c.*832G>A (NIPBL)	NP_056199.2:n.*832G>A
NM_133433.3:c.8378G>A (NIPBL)	NP_597677.2:p.Arg2793Gln
XM_005248280.2:c.*322G>A (NIPBL)	XP_005248337.1:n.*322G>A
XM_005248282.3:c.7634G>A (NIPBL)	XP_005248339.2:p.Arg2545Gln
XM_006714467.2:c.8231G>A (NIPBL)	XP_006714530.1:p.Arg2744Gln
XM_006714468.1:c.8180G>A (NIPBL)	XP_006714531.1:p.Arg2727Gln
XM_011514014.1:c.7997G>A (NIPBL)	XP_011512316.1:p.Arg2666Gln
XM_005248280.3:c.*322G>A (NIPBL)	XP_005248337.1:n.*322G>A
XM_005248282.5:c.7718G>A (NIPBL)	XP_005248339.3:p.Arg2573Gln
XM_006714468.2:c.8180G>A (NIPBL)	XP_006714531.1:p.Arg2727Gln
XM_017009329.1:c.*322G>A (NIPBL)	XP_016864818.1:n.*322G>A
XM_017009330.2:c.6761G>A (NIPBL)	XP_016864819.1:p.Arg2254Gln
XM_017009331.1:c.6752G>A (NIPBL)	XP_016864820.1:p.Arg2251Gln
XR_925644.2:n.11827C>T (CPLANE1)
NM_133433.4:c.8378G>A (NIPBL) MANE Select	NP_597677.2:p.Arg2793Gln
NM_015384.5:c.*832G>A (NIPBL)	NP_056199.2:n.*832G>A