Canonical Allele Identifier: CA359521732

Gene: NIPBL CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37064630C>A (hg19) ; chr5:g.37064528C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064528C>A , CM000667.2:g.37064528C>A	GRCh38
NC_000005.9:g.37064630C>A , CM000667.1:g.37064630C>A	GRCh37
NC_000005.8:g.37100387C>A	NCBI36
NG_006987.1:g.192646C>A
NG_006987.2:g.192646C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8051C>A (NIPBL) MANE Select	ENSP00000282516.8:p.Ser2684Ter
ENST00000652901.1:c.7945C>A (NIPBL)	ENSP00000499536.1:p.His2649Asn
ENST00000282516.12:c.8051C>A (NIPBL)	ENSP00000282516.8:p.Ser2684Ter
ENST00000514335.1:n.1974C>A (NIPBL)
ENST00000621733.1:c.1-50C>A (NIPBL)	ENSP00000480694.1:n.1-50C>A
NM_015384.4:c.*505C>A (NIPBL)	NP_056199.2:n.*505C>A
NM_133433.3:c.8051C>A (NIPBL)	NP_597677.2:p.Ser2684Ter
XM_005248280.2:c.8092C>A (NIPBL)	XP_005248337.1:p.His2698Asn
XM_005248282.3:c.7307C>A (NIPBL)	XP_005248339.2:p.Ser2436Ter
XM_006714467.2:c.7904C>A (NIPBL)	XP_006714530.1:p.Ser2635Ter
XM_006714468.1:c.7853C>A (NIPBL)	XP_006714531.1:p.Ser2618Ter
XM_011514014.1:c.7670C>A (NIPBL)	XP_011512316.1:p.Ser2557Ter
XM_005248280.3:c.8092C>A (NIPBL)	XP_005248337.1:p.His2698Asn
XM_005248282.5:c.7391C>A (NIPBL)	XP_005248339.3:p.Ser2464Ter
XM_006714468.2:c.7853C>A (NIPBL)	XP_006714531.1:p.Ser2618Ter
XM_017009329.1:c.7945C>A (NIPBL)	XP_016864818.1:p.His2649Asn
XM_017009330.2:c.6434C>A (NIPBL)	XP_016864819.1:p.Ser2145Ter
XM_017009331.1:c.6425C>A (NIPBL)	XP_016864820.1:p.Ser2142Ter
XR_925644.2:n.12154G>T (CPLANE1)
NM_133433.4:c.8051C>A (NIPBL) MANE Select	NP_597677.2:p.Ser2684Ter
NM_015384.5:c.*505C>A (NIPBL)	NP_056199.2:n.*505C>A