Canonical Allele Identifier: CA3237348

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs748290328
• ExAC: 5:37064842 G / A
• gnomAD v2: 5-37064842-G-A
• gnomAD v3: 5-37064740-G-A
• gnomAD v4: 5-37064740-G-A
• MyVariant Identifiers: chr5:g.37064842G>A (hg19) ; chr5:g.37064740G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064740G>A , CM000667.2:g.37064740G>A	GRCh38
NC_000005.9:g.37064842G>A , CM000667.1:g.37064842G>A	GRCh37
NC_000005.8:g.37100599G>A	NCBI36
NG_006987.1:g.192858G>A
NG_006987.2:g.192858G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8263G>A (NIPBL) MANE Select	ENSP00000282516.8:p.Asp2755Asn
ENST00000652901.1:c.*207G>A (NIPBL)	ENSP00000499536.1:n.*207G>A
ENST00000282516.12:c.8263G>A (NIPBL)	ENSP00000282516.8:p.Asp2755Asn
ENST00000514335.1:n.2186G>A (NIPBL)
ENST00000621733.1:c.163G>A (NIPBL)	ENSP00000480694.1:p.Asp55Asn
NM_015384.4:c.*717G>A (NIPBL)	NP_056199.2:n.*717G>A
NM_133433.3:c.8263G>A (NIPBL)	NP_597677.2:p.Asp2755Asn
XM_005248280.2:c.*207G>A (NIPBL)	XP_005248337.1:n.*207G>A
XM_005248282.3:c.7519G>A (NIPBL)	XP_005248339.2:p.Asp2507Asn
XM_006714467.2:c.8116G>A (NIPBL)	XP_006714530.1:p.Asp2706Asn
XM_006714468.1:c.8065G>A (NIPBL)	XP_006714531.1:p.Asp2689Asn
XM_011514014.1:c.7882G>A (NIPBL)	XP_011512316.1:p.Asp2628Asn
XM_005248280.3:c.*207G>A (NIPBL)	XP_005248337.1:n.*207G>A
XM_005248282.5:c.7603G>A (NIPBL)	XP_005248339.3:p.Asp2535Asn
XM_006714468.2:c.8065G>A (NIPBL)	XP_006714531.1:p.Asp2689Asn
XM_017009329.1:c.*207G>A (NIPBL)	XP_016864818.1:n.*207G>A
XM_017009330.2:c.6646G>A (NIPBL)	XP_016864819.1:p.Asp2216Asn
XM_017009331.1:c.6637G>A (NIPBL)	XP_016864820.1:p.Asp2213Asn
XR_925644.2:n.11942C>T (CPLANE1)
NM_133433.4:c.8263G>A (NIPBL) MANE Select	NP_597677.2:p.Asp2755Asn
NM_015384.5:c.*717G>A (NIPBL)	NP_056199.2:n.*717G>A