Canonical Allele Identifier: CA234393

Gene: NIPBL CPLANE1

Linked Data

• ClinVar Variation Id: 167362
• ClinVar RCV Id: RCV000153574
• dbSNP Id: rs727504048
• MyVariant Identifiers: chr5:g.37064745A>G (hg19) ; chr5:g.37064643A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064643A>G , CM000667.2:g.37064643A>G	GRCh38
NC_000005.9:g.37064745A>G , CM000667.1:g.37064745A>G	GRCh37
NC_000005.8:g.37100502A>G	NCBI36
NG_006987.1:g.192761A>G
NG_006987.2:g.192761A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8166A>G (NIPBL) MANE Select	ENSP00000282516.8:p.Pro2722=
ENST00000652901.1:c.*110A>G (NIPBL)	ENSP00000499536.1:n.*110A>G
ENST00000282516.12:c.8166A>G (NIPBL)	ENSP00000282516.8:p.Pro2722=
ENST00000514335.1:n.2089A>G (NIPBL)
ENST00000621733.1:c.66A>G (NIPBL)	ENSP00000480694.1:p.Pro22=
NM_015384.4:c.*620A>G (NIPBL)	NP_056199.2:n.*620A>G
NM_133433.3:c.8166A>G (NIPBL)	NP_597677.2:p.Pro2722=
XM_005248280.2:c.*110A>G (NIPBL)	XP_005248337.1:n.*110A>G
XM_005248282.3:c.7422A>G (NIPBL)	XP_005248339.2:p.Pro2474=
XM_006714467.2:c.8019A>G (NIPBL)	XP_006714530.1:p.Pro2673=
XM_006714468.1:c.7968A>G (NIPBL)	XP_006714531.1:p.Pro2656=
XM_011514014.1:c.7785A>G (NIPBL)	XP_011512316.1:p.Pro2595=
XM_005248280.3:c.*110A>G (NIPBL)	XP_005248337.1:n.*110A>G
XM_005248282.5:c.7506A>G (NIPBL)	XP_005248339.3:p.Pro2502=
XM_006714468.2:c.7968A>G (NIPBL)	XP_006714531.1:p.Pro2656=
XM_017009329.1:c.*110A>G (NIPBL)	XP_016864818.1:n.*110A>G
XM_017009330.2:c.6549A>G (NIPBL)	XP_016864819.1:p.Pro2183=
XM_017009331.1:c.6540A>G (NIPBL)	XP_016864820.1:p.Pro2180=
XR_925644.2:n.12039T>C (CPLANE1)
NM_133433.4:c.8166A>G (NIPBL) MANE Select	NP_597677.2:p.Pro2722=
NM_015384.5:c.*620A>G (NIPBL)	NP_056199.2:n.*620A>G